ClinVar Miner

Submissions for variant NM_000017.4(ACADS):c.1084C>T (p.Gln362Ter)

dbSNP: rs541587321
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000409699 SCV000485328 likely pathogenic Deficiency of butyryl-CoA dehydrogenase 2015-11-19 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000409699 SCV003484002 pathogenic Deficiency of butyryl-CoA dehydrogenase 2022-03-23 criteria provided, single submitter clinical testing This variant is present in population databases (rs541587321, gnomAD 0.007%). For these reasons, this variant has been classified as Pathogenic. This variant disrupts a region of the ACADS protein in which other variant(s) (p.Arg386Cys) have been determined to be pathogenic (PMID: 16906473; Invitae). This suggests that this is a clinically significant region of the protein, and that variants that disrupt it are likely to be disease-causing. ClinVar contains an entry for this variant (Variation ID: 370099). This variant has not been reported in the literature in individuals affected with ACADS-related conditions. This sequence change creates a premature translational stop signal (p.Gln362*) in the ACADS gene. While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 51 amino acid(s) of the ACADS protein.

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