--- title: "ABCD1 A95D (c.284C>A) | Dante Labs" description: "ClinVar classifies ABCD1 A95D as Likely pathogenic (reviewed by expert panel). Where it sits in the genome, its predicted effect, and the Genome Test reports that look at it." url: "https://dantelabs.com/genes/abcd1/variants/a95d" --- 1. [Genes](https://dantelabs.com/genes) 2. [ABCD1](https://dantelabs.com/genes/abcd1) 3. ABCD1 A95D Variant # ABCD1 A95D NM_000033.4(ABCD1):c.284C>A (p.Ala95Asp) Also known as - p.Ala95Asp - p.A95D * ClinVar classification Likely pathogenic * Review status 3 stars out of 4 reviewed by expert panel * Last evaluated 16 April 2026 * Expert panel ClinGen Peroxisomal Disorders Variant Curation Expert Panel, ClinGen Data current to ClinVar release 2026-10-12 · Dante Labs data release 2026.10.19-9814e911 Facts last changed 18 October 2026 ## Summary A95D is a missense variant in ABCD1: it changes a single amino acid in the protein the gene encodes. ClinVar classifies it as likely pathogenic for X-linked adrenoleukodystrophy (including adrenomyeloneuropathy) (reviewed by expert panel). ## ClinVar classifications | Condition | Classification | Review status | Submissions | Last evaluated | | -------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------- | ----------------- | ----------------------------------------- | ------------ | -------------- | | [X-linked adrenoleukodystrophy (including adrenomyeloneuropathy)](https://dantelabs.com/conditions/x-linked-adrenoleukodystrophy) [ClinVar VCV005016454 (opens in a new tab)](https://www.ncbi.nlm.nih.gov/clinvar/variation/5016454/) | Likely pathogenic | 3 stars out of 4 reviewed by expert panel | 1 submission | 16 April 2026 | Classifications as ClinVar records them in release 2026-10-12. ClinVar updates them as evidence is reviewed. ## ACMG/AMP criteria The ACMG/AMP criteria A95D meets, from its predicted effect in ABCD1, gnomAD and ClinVar. | Criterion | Strength | Rests on | | ----------------------------------------------- | ---------- | ----------------------------------------------------- | | PM2 Absent or very rare in population databases | Supporting | Not seen in gnomAD exomes, gnomAD genomes | | PP5 A reputable source reports it as pathogenic | Supporting | ClinVar: Likely pathogenic (reviewed by expert panel) | On these criteria alone: uncertain significance. Assessed automatically, without functional, computational or family evidence. Not a clinical classification. ## Population frequency How often A95D is seen among the people whose exomes and genomes gnomAD 4.1 brings together. | Dataset | Allele frequency | Allele count | Homozygotes | Commonest in | | -------------- | ---------------- | ------------ | ----------- | ------------ | | gnomAD exomes | Not seen | 0 of 0 | 0 | | | gnomAD genomes | Not seen | 0 of 0 | 0 | | Figures from gnomAD 4.1, as gnomAD publishes them. Groups are genetic ancestry groups as gnomAD infers them. They describe the variant in gnomAD's populations, not anyone's result. [A95D in the gnomAD browser (opens in a new tab)](https://gnomad.broadinstitute.org/variant/X-153725550-C-A?dataset=gnomad_r4) ## Where it lies in ABCD1 A95D lies in exon 1 of the 10 in ABCD1's MANE Select transcript, NM_000033.4. [ABCD1 variants in exon 1 →](https://dantelabs.com/genes/abcd1/variants?exon=1) [ABCD1's gene diagram →](https://dantelabs.com/genes/abcd1#gene-structure) ## Molecular details | Gene | [ABCD1](https://dantelabs.com/genes/abcd1) | | --------------------------- | -------------------------------------------------------------------------------------------- | | Transcript | NM_000033.4 MANE Select | | Coding DNA change (HGVS c.) | c.284C>A | | Protein change (HGVS p.) | p.Ala95Asp p.A95D | | Predicted consequence | Missense [missense_variant (opens in a new tab)](https://purl.obolibrary.org/obo/SO_0001583) | | Predicted impact | Moderate | | Position (GRCh38) | chrX:153725550 C>A | | Position (GRCh37) | chrX:152991005 C>A | | ClinVar Variation ID | [VCV005016454 (opens in a new tab)](https://www.ncbi.nlm.nih.gov/clinvar/variation/5016454/) | | ClinVar Allele ID | 5126735 | | ClinVar name | NM_000033.4(ABCD1):c.284C>A (p.Ala95Asp) | ## ABCD1 A95D in other databases - [ClinVar VCV005016454 (opens in a new tab)](https://www.ncbi.nlm.nih.gov/clinvar/variation/5016454/) - [gnomAD X-153725550-C-A (opens in a new tab)](https://gnomad.broadinstitute.org/variant/X-153725550-C-A?dataset=gnomad_r4) - [Ensembl X-153725550-C-A (opens in a new tab)](https://www.ensembl.org/Homo_sapiens/Location/View?r=X:153725550-153725550) ## Reports that look at this variant (3) These Genome Test condition reports include A95D among the variants they look at. | Report | Conditions | Inheritance | | ------------------------------------------------------------------------------------------------------------------------------ | --------------------------------------------------------------- | ------------------ | | [Inherited Neurodegenerative Disorders](https://dantelabs.com/conditions/inherited-neurodegenerative-disorders-selected-genes) | KIF5A-Related Neurodegenerative Disorder | Autosomal dominant | | [Other Inherited Leukodystrophies](https://dantelabs.com/conditions/leukodystrophy) | Leukodystrophy (other and unspecified types) | | | [X-Linked Adrenoleukodystrophy (ABCD1)](https://dantelabs.com/conditions/x-linked-adrenoleukodystrophy) | X-linked adrenoleukodystrophy (including adrenomyeloneuropathy) | X-linked recessive | ## Other variants in ABCD1 - [c.-18_8del Likely pathogenic 3 stars out of 4](https://dantelabs.com/genes/abcd1/variants/c--18to8del) - [c.1A>G Likely pathogenic 3 stars out of 4](https://dantelabs.com/genes/abcd1/variants/c-1a-g) - [c.346G>C Likely pathogenic 3 stars out of 4](https://dantelabs.com/genes/abcd1/variants/c-346g-c) - [c.900+2T>A Likely pathogenic 3 stars out of 4](https://dantelabs.com/genes/abcd1/variants/c-900plus2t-a) - [c.900+2T>C Likely pathogenic 3 stars out of 4](https://dantelabs.com/genes/abcd1/variants/c-900plus2t-c) - [c.900+2T>G Likely pathogenic 3 stars out of 4](https://dantelabs.com/genes/abcd1/variants/c-900plus2t-g) - [G116R Likely pathogenic 3 stars out of 4](https://dantelabs.com/genes/abcd1/variants/g116r) - [K217E Likely pathogenic 3 stars out of 4](https://dantelabs.com/genes/abcd1/variants/k217e) - [Q544R Likely pathogenic 3 stars out of 4](https://dantelabs.com/genes/abcd1/variants/q544r) - [R104C Pathogenic 3 stars out of 4](https://dantelabs.com/genes/abcd1/variants/r104c) [All ABCD1 variants](https://dantelabs.com/genes/abcd1/variants) ## Limitations This page describes publicly available information about a genetic variant. It is not a diagnosis, and it says nothing about whether you or anyone else carries this variant. Classifications come from ClinVar and change as new evidence is reviewed. A classification here may differ from the one in ClinVar today, or from the one a laboratory reports. Whole genome sequencing with short reads can miss or miscall some variants, particularly in repeated or highly similar stretches of DNA and in large insertions, deletions or rearrangements. If you have questions about a variant in your own results or in your family, talk to a genetic counsellor or your doctor. ## Sources & credits - Classifications from ClinVar (release 2026-10-12), National Center for Biotechnology Information. - Condition terms from the Mondo Disease Ontology (release 2026-10-06), used under CC BY 4.0. - Gene symbols and names from the HUGO Gene Nomenclature Committee (release 2026-10-16). - Allele identifiers from the ClinGen Allele Registry (release 2026-10-19-c4908f54). - Reference SNP identifiers from dbSNP (release b157), National Center for Biotechnology Information. - Gene–disease links from the Gene Curation Coalition, GenCC (release 2026-10-19). - Difficult regions from the Genome in a Bottle Consortium (release v3.6). - Transcripts from MANE (release v1.5), NCBI and EMBL-EBI. - Predicted consequences from mehari (release 0.11.0), with transcript models from cdot. - Built from Dante Labs data release 2026.10.19-9814e911 of 19 October 2026. ## Cite this page APA > Dante Labs. (18 October 2026). ABCD1 A95D (c.284C>A) (Version 2026.10.19-9814e911). Retrieved 20 October 2026, from https\://dantelabs.com/genes/abcd1/variants/a95d Vancouver > Dante Labs. ABCD1 A95D (c.284C>A) \[Internet]. Version 2026.10.19-9814e911. 18 October 2026 \[cited 20 October 2026]. Available from: https\://dantelabs.com/genes/abcd1/variants/a95d Download citation [RIS](https://dantelabs.com/genes/abcd1/variants/a95d/cite.ris) [BibTeX](https://dantelabs.com/genes/abcd1/variants/a95d/cite.bib) [CSL-JSON](https://dantelabs.com/genes/abcd1/variants/a95d/cite.json) ## Read your whole genome From $449 Free shipping · Results in 6–8 weeks [Explore the Genome Test](https://dantelabs.com/whole-genome-sequencing)