ClinVar Miner

Submissions for variant NM_000274.4(OAT):c.748C>T (p.Arg250Ter)

gnomAD frequency: 0.00001  dbSNP: rs386833617
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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 RCV000049544 SCV003439644 pathogenic Ornithine aminotransferase deficiency 2023-10-15 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Arg250*) 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 (rs386833617, gnomAD 0.003%). This premature translational stop signal has been observed in individual(s) with gyrate atrophy (PMID: 22182799). ClinVar contains an entry for this variant (Variation ID: 56135). For these reasons, this variant has been classified as Pathogenic.
Baylor Genetics RCV000049544 SCV004192217 pathogenic Ornithine aminotransferase deficiency 2024-01-21 criteria provided, single submitter clinical testing
Juha Muilu Group; Institute for Molecular Medicine Finland (FIMM) RCV000049544 SCV000081981 probable-pathogenic Ornithine aminotransferase deficiency no assertion criteria provided not provided Converted during submission to Likely pathogenic.

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