ClinVar Miner

Submissions for variant NM_000016.6(ACADM):c.518del (p.Lys173fs)

dbSNP: rs2100389603
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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 RCV001960687 SCV002235016 pathogenic Medium-chain acyl-coenzyme A dehydrogenase deficiency 2021-05-20 criteria provided, single submitter clinical testing This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Lys173Argfs*20) 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). This variant has not been reported in the literature in individuals with ACADM-related conditions. For these reasons, this variant has been classified as Pathogenic.

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