--- title: "OTC A209V (c.626C>T, rs72558417) | Dante Labs" description: "ClinVar classifies OTC A209V as Pathogenic (criteria provided, multiple submitters, no conflicts). Where it sits in the genome, its predicted effect, and the Genome Test reports that look at it." url: "https://dantelabs.com/genes/otc/variants/a209v" --- 1. [Genes](https://dantelabs.com/genes) 2. [OTC](https://dantelabs.com/genes/otc) 3. OTC A209V Variant # OTC A209V NM_000531.6(OTC):c.626C>T (p.Ala209Val) Also known as - p.Ala209Val - p.A209V - rs72558417 * ClinVar classification Pathogenic * Review status 2 stars out of 4 criteria provided, multiple submitters, no conflicts * Last evaluated 10 December 2025 Data current to ClinVar release 2026-10-12 · Dante Labs data release 2026.10.16-c6eea6bf Facts last changed 16 October 2026 ## Summary A209V is a missense variant in OTC: it changes a single amino acid in the protein the gene encodes. ClinVar classifies it as pathogenic for ornithine carbamoyltransferase deficiency (criteria provided, multiple submitters, no conflicts). ## ClinVar classifications | Condition | Classification | Review status | Submissions | Last evaluated | | ------------------------------------------------------------------------------------------------------------------------------------------- | -------------- | --------------------------------------------------------------------- | ------------- | ---------------- | | ornithine carbamoyltransferase deficiency[ClinVar VCV000097275 (opens in a new tab)](https://www.ncbi.nlm.nih.gov/clinvar/variation/97275/) | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts | 4 submissions | 10 December 2025 | Classifications as ClinVar records them in release 2026-10-12. ClinVar updates them as evidence is reviewed. ## Where it lies in OTC A209V lies in exon 6 of the 10 in OTC's MANE Select transcript, NM_000531.6. [OTC variants in exon 6 →](https://dantelabs.com/genes/otc/variants?exon=6) [OTC's gene diagram →](https://dantelabs.com/genes/otc#gene-structure) ## Molecular details | Gene | [OTC](https://dantelabs.com/genes/otc) | | --------------------------- | ----------------------------------------------------------------------------------------------------------------------------------------------- | | Transcript | NM_000531.6 MANE Select | | Coding DNA change (HGVS c.) | c.626C>T | | Protein change (HGVS p.) | p.Ala209Val p.A209V | | Predicted consequence | Missense [missense_variant (opens in a new tab)](https://purl.obolibrary.org/obo/SO_0001583) | | Predicted impact | Moderate | | Position (GRCh38) | chrX:38403703 C>T | | Position (GRCh37) | chrX:38262956 C>T | | dbSNP ID | [rs72558417 (opens in a new tab)](https://www.ncbi.nlm.nih.gov/snp/rs72558417) | | ClinVar Variation ID | [VCV000097275 (opens in a new tab)](https://www.ncbi.nlm.nih.gov/clinvar/variation/97275/) | | ClinVar Allele ID | 103167 | | ClinGen Allele Registry ID | [CA224717 (opens in a new tab)](https://reg.clinicalgenome.org/redmine/projects/registry/genboree_registry/by_canonicalid?canonicalid=CA224717) | | ClinVar name | NM_000531.6(OTC):c.626C>T (p.Ala209Val) | ## OTC A209V in other databases - [ClinVar VCV000097275 (opens in a new tab)](https://www.ncbi.nlm.nih.gov/clinvar/variation/97275/) - [dbSNP rs72558417 (opens in a new tab)](https://www.ncbi.nlm.nih.gov/snp/rs72558417) - [ClinGen Allele Registry CA224717 (opens in a new tab)](https://reg.clinicalgenome.org/redmine/projects/registry/genboree_registry/by_canonicalid?canonicalid=CA224717) - [gnomAD X-38403703-C-T (opens in a new tab)](https://gnomad.broadinstitute.org/variant/X-38403703-C-T?dataset=gnomad_r4) - [Ensembl rs72558417 (opens in a new tab)](https://www.ensembl.org/Homo_sapiens/Variation/Explore?v=rs72558417) ## Reports that look at this variant (1) These Genome Test condition reports include A209V among the variants they look at. | Report | Conditions | Inheritance | | --------------------------------------------------------------------------- | ------------------- | ----------- | | [Urea Cycle Disorder](https://dantelabs.com/conditions/urea-cycle-disorder) | Urea Cycle Disorder | | ## Other variants in OTC - [A208T Pathogenic 2 stars out of 4](https://dantelabs.com/genes/otc/variants/a208t) - [A233V Likely pathogenic 2 stars out of 4](https://dantelabs.com/genes/otc/variants/a233v) - [c.3G>A Pathogenic 2 stars out of 4](https://dantelabs.com/genes/otc/variants/c-3g-a) - [c.77+1G>A Pathogenic 2 stars out of 4](https://dantelabs.com/genes/otc/variants/c-77plus1g-a) - [c.298+2T>G Pathogenic 2 stars out of 4](https://dantelabs.com/genes/otc/variants/c-298plus2t-g) - [c.540+1G>A Pathogenic 2 stars out of 4](https://dantelabs.com/genes/otc/variants/c-540plus1g-a) - [c.540+265G>A Pathogenic 2 stars out of 4](https://dantelabs.com/genes/otc/variants/c-540plus265g-a) - [c.663+1G>T Pathogenic 2 stars out of 4](https://dantelabs.com/genes/otc/variants/c-663plus1g-t) - [c.663+2T>C Pathogenic 2 stars out of 4](https://dantelabs.com/genes/otc/variants/c-663plus2t-c) - [c.717G>A Likely pathogenic 2 stars out of 4](https://dantelabs.com/genes/otc/variants/c-717g-a) [All OTC variants](https://dantelabs.com/genes/otc/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). OTC A209V (c.626C>T, rs72558417) (Version 2026.10.16-c6eea6bf). Retrieved 17 October 2026, from https\://dantelabs.com/genes/otc/variants/a209v Vancouver > Dante Labs. OTC A209V (c.626C>T, rs72558417) \[Internet]. Version 2026.10.16-c6eea6bf. 16 October 2026 \[cited 17 October 2026]. Available from: https\://dantelabs.com/genes/otc/variants/a209v Download citation [RIS](https://dantelabs.com/genes/otc/variants/a209v/cite.ris) [BibTeX](https://dantelabs.com/genes/otc/variants/a209v/cite.bib) [CSL-JSON](https://dantelabs.com/genes/otc/variants/a209v/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)