--- title: "MECP2 A143D (c.428C>A, rs267608470) | Dante Labs" description: "ClinVar classifies MECP2 A143D as 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/mecp2/variants/a143d" --- 1. [Genes](https://dantelabs.com/genes) 2. [MECP2](https://dantelabs.com/genes/mecp2) 3. MECP2 A143D Variant # MECP2 A143D NM_001110792.2(MECP2):c.428C>A (p.Ala143Asp) Also known as - p.Ala143Asp - p.A143D - rs267608470 * ClinVar classification Pathogenic * Review status 3 stars out of 4 reviewed by expert panel * Last evaluated 30 August 2024 * Expert panel ClinGen Rett and Angelman-like Disorders Variant Curation Expert Panel Data current to ClinVar release 2026-10-12 · Dante Labs data release 2026.10.16-c6eea6bf Facts last changed 16 October 2026 ## Summary A143D is a missense variant in MECP2: it changes a single amino acid in the protein the gene encodes. ClinVar classifies it as pathogenic for Rett Syndrome (reviewed by expert panel). ## ClinVar classifications | Condition | Classification | Review status | Submissions | Last evaluated | | ------------------------------------------------------------------------------------------------------------------------------------------------------------------- | -------------- | ----------------------------------------- | ------------ | -------------- | | [Rett Syndrome](https://dantelabs.com/conditions/rett-syndrome) [ClinVar VCV000143556 (opens in a new tab)](https://www.ncbi.nlm.nih.gov/clinvar/variation/143556/) | Pathogenic | 3 stars out of 4 reviewed by expert panel | 1 submission | 30 August 2024 | Classifications as ClinVar records them in release 2026-10-12. ClinVar updates them as evidence is reviewed. ## Where it lies in MECP2 A143D lies in exon 3 of the 3 in MECP2's MANE Select transcript, NM_001110792.2. [MECP2 variants in exon 3 →](https://dantelabs.com/genes/mecp2/variants?exon=3) [MECP2's gene diagram →](https://dantelabs.com/genes/mecp2#gene-structure) ## Molecular details | Gene | [MECP2](https://dantelabs.com/genes/mecp2) | | --------------------------- | ----------------------------------------------------------------------------------------------------------------------------------------------- | | Transcript | NM_001110792.2 MANE Select | | Coding DNA change (HGVS c.) | c.428C>A | | Protein change (HGVS p.) | p.Ala143Asp p.A143D | | Predicted consequence | Missense [missense_variant (opens in a new tab)](https://purl.obolibrary.org/obo/SO_0001583) | | Predicted impact | Moderate | | Position (GRCh38) | chrX:154031436 G>T | | Position (GRCh37) | chrX:153296887 G>T | | dbSNP ID | [rs267608470 (opens in a new tab)](https://www.ncbi.nlm.nih.gov/snp/rs267608470) | | ClinVar Variation ID | [VCV000143556 (opens in a new tab)](https://www.ncbi.nlm.nih.gov/clinvar/variation/143556/) | | ClinVar Allele ID | 153288 | | ClinGen Allele Registry ID | [CA270384 (opens in a new tab)](https://reg.clinicalgenome.org/redmine/projects/registry/genboree_registry/by_canonicalid?canonicalid=CA270384) | | ClinVar name | NM_001110792.2(MECP2):c.428C>A (p.Ala143Asp) | ## MECP2 A143D in other databases - [ClinVar VCV000143556 (opens in a new tab)](https://www.ncbi.nlm.nih.gov/clinvar/variation/143556/) - [dbSNP rs267608470 (opens in a new tab)](https://www.ncbi.nlm.nih.gov/snp/rs267608470) - [ClinGen Allele Registry CA270384 (opens in a new tab)](https://reg.clinicalgenome.org/redmine/projects/registry/genboree_registry/by_canonicalid?canonicalid=CA270384) - [gnomAD X-154031436-G-T (opens in a new tab)](https://gnomad.broadinstitute.org/variant/X-154031436-G-T?dataset=gnomad_r4) - [Ensembl rs267608470 (opens in a new tab)](https://www.ensembl.org/Homo_sapiens/Variation/Explore?v=rs267608470) ## Reports that look at this variant (1) These Genome Test condition reports include A143D among the variants they look at. | Report | Conditions | Inheritance | | ------------------------------------------------------------------------------------------- | ------------- | ----------------- | | [Rett Syndrome and MECP2-Related Disorders](https://dantelabs.com/conditions/rett-syndrome) | Rett Syndrome | X-linked dominant | ## Other variants in MECP2 - [A291V Likely pathogenic 3 stars out of 4](https://dantelabs.com/genes/mecp2/variants/a291v) - [c.1A>T Likely pathogenic 3 stars out of 4](https://dantelabs.com/genes/mecp2/variants/c-1a-t) - [c.62+1G>A Pathogenic 3 stars out of 4](https://dantelabs.com/genes/mecp2/variants/c-62plus1g-a) - [c.62+2T>G Pathogenic 3 stars out of 4](https://dantelabs.com/genes/mecp2/variants/c-62plus2t-g) - [c.408G>T Pathogenic 3 stars out of 4](https://dantelabs.com/genes/mecp2/variants/c-408g-t) - [c.414-3C>G Pathogenic 3 stars out of 4](https://dantelabs.com/genes/mecp2/variants/c-414-3c-g) - [D163G Likely pathogenic 3 stars out of 4](https://dantelabs.com/genes/mecp2/variants/d163g) - [D168G Pathogenic 3 stars out of 4](https://dantelabs.com/genes/mecp2/variants/d168g) - [F169I Likely pathogenic 3 stars out of 4](https://dantelabs.com/genes/mecp2/variants/f169i) - [F169L Pathogenic 3 stars out of 4](https://dantelabs.com/genes/mecp2/variants/f169l) [All MECP2 variants](https://dantelabs.com/genes/mecp2/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). MECP2 A143D (c.428C>A, rs267608470) (Version 2026.10.16-c6eea6bf). Retrieved 16 October 2026, from https\://dantelabs.com/genes/mecp2/variants/a143d Vancouver > Dante Labs. MECP2 A143D (c.428C>A, rs267608470) \[Internet]. Version 2026.10.16-c6eea6bf. 16 October 2026 \[cited 16 October 2026]. Available from: https\://dantelabs.com/genes/mecp2/variants/a143d Download citation [RIS](https://dantelabs.com/genes/mecp2/variants/a143d/cite.ris) [BibTeX](https://dantelabs.com/genes/mecp2/variants/a143d/cite.bib) [CSL-JSON](https://dantelabs.com/genes/mecp2/variants/a143d/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)