ClinVar Miner

Submissions for variant NM_000017.4(ACADS):c.125_135del (p.Leu42fs)

dbSNP: rs1057516733
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000409347 SCV000486135 likely pathogenic Deficiency of butyryl-CoA dehydrogenase 2016-04-06 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000409347 SCV003474843 pathogenic Deficiency of butyryl-CoA dehydrogenase 2022-07-05 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Leu42Profs*17) in the ACADS gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in ACADS are known to be pathogenic (PMID: 12736383, 18523805). For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 370741). This variant has not been reported in the literature in individuals affected with ACADS-related conditions. This variant is present in population databases (no rsID available, gnomAD 0.007%).

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