ClinVar Miner

Submissions for variant NM_000274.4(OAT):c.283C>T (p.Pro95Ser)

gnomAD frequency: 0.00008  dbSNP: rs372105047
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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 RCV001071241 SCV001236533 uncertain significance Ornithine aminotransferase deficiency 2022-07-19 criteria provided, single submitter clinical testing This sequence change replaces proline, which is neutral and non-polar, with serine, which is neutral and polar, at codon 95 of the OAT protein (p.Pro95Ser). This variant is present in population databases (rs372105047, gnomAD 0.02%). This variant has not been reported in the literature in individuals affected with OAT-related conditions. ClinVar contains an entry for this variant (Variation ID: 864129). 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 disruptive. 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.
Ambry Genetics RCV002554622 SCV003553204 uncertain significance Inborn genetic diseases 2022-07-12 criteria provided, single submitter clinical testing The c.283C>T (p.P95S) alteration is located in exon 3 (coding exon 2) of the OAT gene. This alteration results from a C to T substitution at nucleotide position 283, causing the proline (P) at amino acid position 95 to be replaced by a serine (S). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Natera, Inc. RCV001071241 SCV002092021 uncertain significance Ornithine aminotransferase deficiency 2020-09-16 no assertion criteria provided clinical testing

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