ClinVar Miner

Submissions for variant NM_000531.6(OTC):c.793T>C (p.Trp265Arg)

dbSNP: rs72558445
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 RCV003415853 SCV004114136 uncertain significance OTC-related condition 2023-01-25 criteria provided, single submitter clinical testing The OTC c.793T>C variant is predicted to result in the amino acid substitution p.Trp265Arg. This variant has been reported in a patient with late-onset ornithine transcarbamylase (OTC) deficiency (Supplementary Table S1, Yamaguchi et al. 2006. PubMed ID: 16786505). Of note, another variant (c.794G>T) impacting the same codon but leading to a different amino acid change (p.Trp265Leu) has been reported in two unrelated males with mild OTC deficiency, and analysis of liver biopsies from these patients showed a decrease in OTC activity (Giorgi et al. 2000. PubMed ID: 10737985). This variant has not been reported in a large population database (http://gnomad.broadinstitute.org), indicating this variant is rare. Although we suspect that this variant may be pathogenic, at this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence.
GenMed Metabolism Lab RCV000083576 SCV000115662 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.