ClinVar Miner

Submissions for variant NM_000016.6(ACADM):c.475del (p.Cys159fs)

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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 RCV002648162 SCV003523313 pathogenic Medium-chain acyl-coenzyme A dehydrogenase deficiency 2022-01-11 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. This variant is also known as ∆474. This premature translational stop signal has been observed in individual(s) with medium-chain acyl-coenzyme A dehydrogenase deficiency (PMID: 9158144). This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Cys159Valfs*2) 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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