ClinVar Miner

Submissions for variant NM_000016.6(ACADM):c.862del (p.Ala288fs)

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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 RCV003503509 SCV004366356 pathogenic Medium-chain acyl-coenzyme A dehydrogenase deficiency 2023-12-12 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Ala288Leufs*4) 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 is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with ACADM-related conditions. For these reasons, this variant has been classified as Pathogenic.

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