Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Prevention |
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. |
Gen |
RCV000083572 | SCV000115658 | pathogenic | not provided | no assertion criteria provided | not provided | Converted during submission to Pathogenic. |