ClinVar Miner

Submissions for variant NM_000274.4(OAT):c.994G>A (p.Val332Met)

dbSNP: rs121965047
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Baylor Genetics RCV000049551 SCV004208962 pathogenic Ornithine aminotransferase deficiency 2022-01-31 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV000049551 SCV005669941 likely pathogenic Ornithine aminotransferase deficiency 2024-01-20 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000049551 SCV005835782 likely pathogenic Ornithine aminotransferase deficiency 2024-03-16 criteria provided, single submitter clinical testing This sequence change replaces valine, which is neutral and non-polar, with methionine, which is neutral and non-polar, at codon 332 of the OAT protein (p.Val332Met). This variant is present in population databases (rs121965047, gnomAD 0.0009%). This missense change has been observed in individuals with gyrate atrophy (PMID: 3375240, 23076989). ClinVar contains an entry for this variant (Variation ID: 162). 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 with a positive predictive value of 80%. Experimental studies have shown that this missense change affects OAT function (PMID: 3375240, 7887415, 8281144, 23076989). 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.
OMIM RCV000000185 SCV000020328 pathogenic Gyrate atrophy of choroid and retina with pyridoxine-responsive ornithinemia 1993-11-01 no assertion criteria provided literature only
Juha Muilu Group; Institute for Molecular Medicine Finland (FIMM) RCV000049551 SCV000081988 probable-pathogenic Ornithine aminotransferase deficiency no assertion criteria provided not provided Converted during submission to Likely pathogenic.

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