ClinVar Miner

Submissions for variant NM_000531.6(OTC):c.788A>G (p.Asp263Gly)

dbSNP: rs72558443
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 2
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics, part of Exact Sciences RCV003398689 SCV004120419 likely pathogenic OTC-related disorder 2023-04-11 criteria provided, single submitter clinical testing The OTC c.788A>G variant is predicted to result in the amino acid substitution p.Asp263Gly. This variant was reported in a female with suspected ornithine transcarbamylase deficiency (OTC deficiency) (McCullough et al. 2000. PubMed ID: 10946359). A different substitution of the same amino acid (p.Asp263Asn) was also reported in a female with suspected OTC deficiency (Tuchman et al. 1997. PubMed ID: 9266388). The p.Asp263 amino acid is located in the ornithine binding domain, and substitutions in this region are therefore likely to be disruptive (Ali et al. 2018. PubMed ID: 30175132). This variant has not been reported in a large population database (http://gnomad.broadinstitute.org), indicating this variant is rare. Taken together, this variant is interpreted as likely pathogenic.
GenMed Metabolism Lab RCV000083572 SCV000115658 pathogenic not provided no assertion criteria provided not provided Converted during submission to Pathogenic.

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.