ClinVar Miner

Submissions for variant NM_000274.4(OAT):c.268C>G (p.Gln90Glu)

dbSNP: rs121965060
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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 RCV000000205 SCV002291827 uncertain significance Ornithine aminotransferase deficiency 2023-08-10 criteria provided, single submitter clinical testing This sequence change replaces glutamine, which is neutral and polar, with glutamic acid, which is acidic and polar, at codon 90 of the OAT protein (p.Gln90Glu). This variant is not present in population databases (gnomAD no frequency). This missense change has been observed in individual(s) with gyrate atrophy of the choroid and retina (PMID: 7668253). ClinVar contains an entry for this variant (Variation ID: 182). 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 OAT protein function. Studies have shown that this missense change alters OAT gene expression (PMID: 7668253). In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.
OMIM RCV000000205 SCV000020348 pathogenic Ornithine aminotransferase deficiency 1995-08-01 no assertion criteria provided literature only

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