ClinVar Miner

Submissions for variant NM_000274.4(OAT):c.478G>A (p.Val160Met)

gnomAD frequency: 0.00011  dbSNP: rs148433929
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV001105247 SCV001262186 uncertain significance Ornithine aminotransferase deficiency 2017-04-28 criteria provided, single submitter clinical testing This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases did not allow this variant to be ruled in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance.
Labcorp Genetics (formerly Invitae), Labcorp RCV001105247 SCV001420251 likely benign Ornithine aminotransferase deficiency 2024-10-29 criteria provided, single submitter clinical testing
Baylor Genetics RCV001105247 SCV001524618 uncertain significance Ornithine aminotransferase deficiency 2020-04-13 criteria provided, single submitter clinical testing This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868].
Ambry Genetics RCV004032108 SCV004994435 uncertain significance Inborn genetic diseases 2023-09-26 criteria provided, single submitter clinical testing The c.478G>A (p.V160M) alteration is located in exon 4 (coding exon 3) of the OAT gene. This alteration results from a G to A substitution at nucleotide position 478, causing the valine (V) at amino acid position 160 to be replaced by a methionine (M). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Natera, Inc. RCV001105247 SCV001467298 uncertain significance Ornithine aminotransferase deficiency 2020-04-11 no assertion criteria provided clinical testing

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