ClinVar Miner

Submissions for variant NM_000016.6(ACADM):c.342T>A (p.Tyr114Ter)

dbSNP: rs2100365911
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001941911 SCV002231941 pathogenic Medium-chain acyl-coenzyme A dehydrogenase deficiency 2021-08-03 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. This variant has not been reported in the literature in individuals affected with ACADM-related conditions. This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Tyr114*) in the ACADM gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in ACADM are known to be pathogenic (PMID: 16121256, 20434380).

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