Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Preventiongenetics, |
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. |
Gen |
RCV000083576 | SCV000115662 | pathogenic | not provided | no assertion criteria provided | not provided | Converted during submission to Pathogenic. |