ClinVar Miner

Submissions for variant NM_000016.6(ACADM):c.601del (p.Tyr201fs)

gnomAD frequency: 0.00002  dbSNP: rs772650083
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001234486 SCV001407136 pathogenic Medium-chain acyl-coenzyme A dehydrogenase deficiency 2023-04-07 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 960879). This variant has not been reported in the literature in individuals affected with ACADM-related conditions. This variant is present in population databases (rs772650083, gnomAD 0.02%). This sequence change creates a premature translational stop signal (p.Tyr201Ilefs*38) 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).
Fulgent Genetics, Fulgent Genetics RCV001234486 SCV002810307 likely pathogenic Medium-chain acyl-coenzyme A dehydrogenase deficiency 2022-03-20 criteria provided, single submitter clinical testing
Baylor Genetics RCV001234486 SCV004213974 likely pathogenic Medium-chain acyl-coenzyme A dehydrogenase deficiency 2024-03-17 criteria provided, single submitter clinical testing
Revvity Omics, Revvity RCV001234486 SCV004238411 likely pathogenic Medium-chain acyl-coenzyme A dehydrogenase deficiency 2023-02-17 criteria provided, single submitter clinical testing

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