ClinVar Miner

Submissions for variant NM_000436.4(OXCT1):c.1460_1463del (p.Ile487fs)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV004700052 SCV005205532 pathogenic Succinyl-CoA acetoacetate transferase deficiency 2024-06-24 criteria provided, single submitter clinical testing Variant summary: OXCT1 c.1460_1463delTTGA (p.Ile487SerfsX6) results in a premature termination codon, predicted to cause a truncation of the encoded protein or absence of the protein due to nonsense mediated decay, which are commonly known mechanisms for disease. The variant allele was found at a frequency of 4e-06 in 251446 control chromosomes. To our knowledge, no occurrence of c.1460_1463delTTGA in individuals affected with Succinyl-CoA Acetoacetate Transferase Deficiency and no experimental evidence demonstrating its impact on protein function have been reported. No submitters have cited clinical-significance assessments for this variant to ClinVar. Based on the evidence outlined above, the variant was classified as pathogenic.

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