ClinVar Miner

Submissions for variant NM_000274.4(OAT):c.812G>A (p.Arg271Lys)

dbSNP: rs121965042
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000000178 SCV002232601 pathogenic Ornithine aminotransferase deficiency 2021-10-28 criteria provided, single submitter clinical testing This sequence change replaces arginine, which is basic and polar, with lysine, which is basic and polar, at codon 271 of the OAT protein (p.Arg271Lys). This variant is not present in population databases (gnomAD no frequency). For these reasons, this variant has been classified as Pathogenic. Experimental studies have shown that this missense change affects OAT function (PMID: 1737786). Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). ClinVar contains an entry for this variant (Variation ID: 155). This missense change has been observed in individual(s) with gyrate atrophy (PMID: 1737786, 8670789, 24429551).
Baylor Genetics RCV000000178 SCV005053768 pathogenic Ornithine aminotransferase deficiency 2024-01-16 criteria provided, single submitter clinical testing
OMIM RCV000000178 SCV000020321 pathogenic Ornithine aminotransferase deficiency 1992-02-15 no assertion criteria provided literature only

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