ClinVar Miner

Submissions for variant NM_000531.6(OTC):c.1063T>G (p.Ter355Gly)

dbSNP: rs2147349974
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001963887 SCV002249259 likely pathogenic Ornithine carbamoyltransferase deficiency 2021-05-17 criteria provided, single submitter clinical testing This variant is not present in population databases (ExAC no frequency). This variant has been observed in individual(s) with OTC-related conditions. (Invitae). In at least one individual the variant was observed to be de novo. This variant results in an extension of the OTC protein. Other variant(s) that result in a similarly extended protein product (p.*355Cysext*14) have been observed in individuals with OTC-related conditions (PMID: 23278509). This suggests that these extensions may be clinically significant. In summary, the currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as Likely Pathogenic. This sequence change disrupts the translational stop signal of the OTC mRNA. It is expected to extend the length of the OTC protein by 14 additional amino acid residues.
All of Us Research Program, National Institutes of Health RCV001963887 SCV005431344 uncertain significance Ornithine carbamoyltransferase deficiency 2023-12-01 criteria provided, single submitter clinical testing

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