ClinVar Miner

Submissions for variant NM_000531.6(OTC):c.803T>C (p.Met268Thr)

dbSNP: rs72558449
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000702113 SCV000830948 pathogenic Ornithine carbamoyltransferase deficiency 2022-11-08 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. 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. ClinVar contains an entry for this variant (Variation ID: 97333). This missense change has been observed in individuals with ornithine transcarbamylase deficiency (PMID: 8365726, 9286441, 12083811). This variant is not present in population databases (gnomAD no frequency). This sequence change replaces methionine, which is neutral and non-polar, with threonine, which is neutral and polar, at codon 268 of the OTC protein (p.Met268Thr).
Revvity Omics, Revvity RCV000702113 SCV002020194 likely pathogenic Ornithine carbamoyltransferase deficiency 2020-08-10 criteria provided, single submitter clinical testing
GenMed Metabolism Lab RCV000083580 SCV000115666 pathogenic not provided no assertion criteria provided not provided Converted during submission to Pathogenic.

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