ClinVar Miner

Submissions for variant NM_000531.6(OTC):c.1033T>C (p.Tyr345His)

dbSNP: rs66469337
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001063477 SCV001228324 pathogenic Ornithine carbamoyltransferase deficiency 2022-03-15 criteria provided, single submitter clinical testing This variant is not present in population databases (gnomAD no frequency). This sequence change replaces tyrosine, which is neutral and polar, with histidine, which is basic and polar, at codon 345 of the OTC protein (p.Tyr345His). This missense change has been observed in individuals with ornithine transcarbamylase deficiency (PMID: 16786505, 18662984, 29123827; Invitae). For these reasons, this variant has been classified as Pathogenic. This variant disrupts the p.Tyr345 amino acid residue in OTC. Other variant(s) that disrupt this residue have been observed in individuals with OTC-related conditions (PMID: 1480464, 10946359), which suggests that this may be a clinically significant amino acid residue. Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated. ClinVar contains an entry for this variant (Variation ID: 97100).
Revvity Omics, Revvity RCV001063477 SCV004235695 uncertain significance Ornithine carbamoyltransferase deficiency 2023-02-03 criteria provided, single submitter clinical testing
GenMed Metabolism Lab RCV000083324 SCV000115410 pathogenic not provided no assertion criteria provided not provided Converted during submission to Pathogenic.

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