ClinVar Miner

Submissions for variant NM_000017.4(ACADS):c.224del (p.Gly75fs)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Myriad Genetics, Inc. RCV002310552 SCV002603274 likely pathogenic Deficiency of butyryl-CoA dehydrogenase 2022-01-02 criteria provided, single submitter clinical testing NM_000017.2(ACADS):c.224delG(G75Afs*42) is expected to be pathogenic in the context of short-chain acyl-CoA dehydrogenase deficiency. This variant is predicted to lead to an abnormal or absent protein product due to the creation of a premature termination codon in ACADS, a gene where loss-of-function variants are known to be pathogenic. Please note: this variant was assessed in the context of healthy population screening.

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