ClinVar Miner

Submissions for variant NM_000274.4(OAT):c.355G>A (p.Val119Ile)

gnomAD frequency: 0.00013  dbSNP: rs150939128
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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 RCV000688102 SCV000815702 uncertain significance Ornithine aminotransferase deficiency 2024-01-24 criteria provided, single submitter clinical testing This sequence change replaces valine, which is neutral and non-polar, with isoleucine, which is neutral and non-polar, at codon 119 of the OAT protein (p.Val119Ile). This variant is present in population databases (rs150939128, gnomAD 0.07%). 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: 567900). 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 not expected to disrupt OAT protein function with a negative predictive value of 80%. 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 RCV002547121 SCV003686868 uncertain significance Inborn genetic diseases 2021-08-09 criteria provided, single submitter clinical testing The c.355G>A (p.V119I) alteration is located in exon 3 (coding exon 2) of the OAT gene. This alteration results from a G to A substitution at nucleotide position 355, causing the valine (V) at amino acid position 119 to be replaced by an isoleucine (I). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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