--- title: "ABCD1 K217E (c.649A>G) | Dante Labs" description: "ClinVar classifies ABCD1 K217E 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/k217e" --- 1. [Genes](https://dantelabs.com/genes) 2. [ABCD1](https://dantelabs.com/genes/abcd1) 3. ABCD1 K217E Variant # ABCD1 K217E NM_000033.4(ABCD1):c.649A>G (p.Lys217Glu) Also known as - p.Lys217Glu - p.K217E * 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 2026.10.16-c6eea6bf Facts last changed 16 October 2026 ## Summary K217E 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 VCV005016455 (opens in a new tab)](https://www.ncbi.nlm.nih.gov/clinvar/variation/5016455/) | 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. ## Where it lies in ABCD1 K217E 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.649A>G | | Protein change (HGVS p.) | p.Lys217Glu p.K217E | | Predicted consequence | Missense [missense_variant (opens in a new tab)](https://purl.obolibrary.org/obo/SO_0001583) | | Predicted impact | Moderate | | Position (GRCh38) | chrX:153725915 A>G | | Position (GRCh37) | chrX:152991370 A>G | | ClinVar Variation ID | [VCV005016455 (opens in a new tab)](https://www.ncbi.nlm.nih.gov/clinvar/variation/5016455/) | | ClinVar Allele ID | 5126736 | | ClinVar name | NM_000033.4(ABCD1):c.649A>G (p.Lys217Glu) | ## ABCD1 K217E in other databases - [ClinVar VCV005016455 (opens in a new tab)](https://www.ncbi.nlm.nih.gov/clinvar/variation/5016455/) - [gnomAD X-153725915-A-G (opens in a new tab)](https://gnomad.broadinstitute.org/variant/X-153725915-A-G?dataset=gnomad_r4) - [Ensembl X-153725915-A-G (opens in a new tab)](https://www.ensembl.org/Homo_sapiens/Location/View?r=X:153725915-153725915) ## Reports that look at this variant (2) These Genome Test condition reports include K217E among the variants they look at. | Report | Conditions | Inheritance | | ------------------------------------------------------------------------------------------------------- | --------------------------------------------------------------- | ------------------ | | [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 - [A95D Likely pathogenic 3 stars out of 4](https://dantelabs.com/genes/abcd1/variants/a95d) - [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) - [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 2026-10-16-c4908f54). - Reference SNP identifiers from dbSNP (release b157), National Center for Biotechnology Information. - Gene–disease links from the Gene Curation Coalition, GenCC (release 2026-10-16). - 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 2026.10.16-c6eea6bf of 16 October 2026. ## Cite this page APA > Dante Labs. (16 October 2026). ABCD1 K217E (c.649A>G) (Version 2026.10.16-c6eea6bf). Retrieved 17 October 2026, from https\://dantelabs.com/genes/abcd1/variants/k217e Vancouver > Dante Labs. ABCD1 K217E (c.649A>G) \[Internet]. Version 2026.10.16-c6eea6bf. 16 October 2026 \[cited 17 October 2026]. Available from: https\://dantelabs.com/genes/abcd1/variants/k217e Download citation [RIS](https://dantelabs.com/genes/abcd1/variants/k217e/cite.ris) [BibTeX](https://dantelabs.com/genes/abcd1/variants/k217e/cite.bib) [CSL-JSON](https://dantelabs.com/genes/abcd1/variants/k217e/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)