ClinVar Miner

Submissions for variant NM_000274.4(OAT):c.192_193del (p.Gly65fs)

dbSNP: rs386833600
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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000000201 SCV000361347 pathogenic Ornithine aminotransferase deficiency 2024-11-22 criteria provided, single submitter clinical testing The OAT c.192_193delAG (p.Gly65LysfsTer15) variant causes a shift in the protein reading frame that is predicted to result in premature termination of the protein. Loss of normal protein function through either protein truncation or nonsense-mediated mRNA decay is expected. This variant is not observed at a significant frequency in version 4.1.0 of the Genome Aggregation Database. The p.Gly65LysfsTer15 variant was identified in trans with a pathogenic variant in at least one individual with a phenotype consistent with ornithine aminotransferase deficiency (PMID:1609808). Functional studies conducted in patient fibroblasts demonstrated that this variant impacts protein function (PMID:1609808). Based on the available evidence, the c.192_193delAG (p.Gly65LysfsTer15) variant is classified as pathogenic for ornithine aminotransferase deficiency.
Labcorp Genetics (formerly Invitae), Labcorp RCV000000201 SCV001588482 pathogenic Ornithine aminotransferase deficiency 2024-01-02 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Gly65Lysfs*15) in the OAT gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in OAT are known to be pathogenic (PMID: 1737786, 23076989). This variant is present in population databases (rs386833600, gnomAD 0.004%). This premature translational stop signal has been observed in individual(s) with clinical features of gyrate atrophy (PMID: 1609808). This variant is also known as 2-bp deletion (AG). ClinVar contains an entry for this variant (Variation ID: 178). For these reasons, this variant has been classified as Pathogenic.
Baylor Genetics RCV000000201 SCV004208942 pathogenic Ornithine aminotransferase deficiency 2024-02-27 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV000000201 SCV005668010 likely pathogenic Ornithine aminotransferase deficiency 2024-06-10 criteria provided, single submitter clinical testing
OMIM RCV000000201 SCV000020344 pathogenic Ornithine aminotransferase deficiency 1992-07-01 no assertion criteria provided literature only
Juha Muilu Group; Institute for Molecular Medicine Finland (FIMM) RCV000000201 SCV000081964 probable-pathogenic Ornithine aminotransferase deficiency no assertion criteria provided not provided Converted during submission to Likely pathogenic.
Natera, Inc. RCV000000201 SCV002095282 pathogenic Ornithine aminotransferase deficiency 2021-06-01 no assertion criteria provided clinical testing

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