ClinVar Miner

Submissions for variant NM_000531.6(OTC):c.286T>C (p.Ser96Pro)

gnomAD frequency: 0.00001  dbSNP: rs184053962
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001233433 SCV001406026 likely pathogenic Ornithine carbamoyltransferase deficiency 2023-09-08 criteria provided, single submitter clinical testing This sequence change replaces serine, which is neutral and polar, with proline, which is neutral and non-polar, at codon 96 of the OTC protein (p.Ser96Pro). This variant is present in population databases (rs184053962, gnomAD 0.008%). This missense change has been observed in individual(s) with clinical features of OTC deficiency (PMID: 30175132). ClinVar contains an entry for this variant (Variation ID: 959988). Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is expected to disrupt OTC protein function. This variant disrupts the p.Ser96 amino acid residue in OTC. Other variant(s) that disrupt this residue have been observed in individuals with OTC-related conditions (PMID: 17334707), which suggests that this may be a clinically significant amino acid residue. 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.
Revvity Omics, Revvity RCV001233433 SCV004235694 uncertain significance Ornithine carbamoyltransferase deficiency 2023-05-04 criteria provided, single submitter clinical testing

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