ClinVar Miner

Submissions for variant NM_000017.4(ACADS):c.973C>T (p.Arg325Trp)

gnomAD frequency: 0.00006  dbSNP: rs121908006
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000185689 SCV000238610 pathogenic not provided 2017-08-03 criteria provided, single submitter clinical testing The R325W missense variant in the ACADS gene has been reported previously in association with short chain acyl-CoA dehydrogenase (SCAD) deficiency (Corydon et al., 2001). Expression studies in E. coli found that the R325W variant is associated with undetectable SCAD enzyme activity (Corydon et al., 2001).
Invitae RCV000004039 SCV000756733 pathogenic Deficiency of butyryl-CoA dehydrogenase 2023-12-15 criteria provided, single submitter clinical testing This sequence change replaces arginine, which is basic and polar, with tryptophan, which is neutral and slightly polar, at codon 325 of the ACADS protein (p.Arg325Trp). This variant is present in population databases (rs121908006, gnomAD 0.006%). This missense change has been observed in individual(s) with short-chain acyl-coA dehydrogenase (SCAD) deficiency (PMID: 11134486; Invitae). In at least one individual the data is consistent with being in trans (on the opposite chromosome) from a pathogenic variant. ClinVar contains an entry for this variant (Variation ID: 3835). Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is expected to disrupt ACADS protein function with a positive predictive value of 80%. Experimental studies have shown that this missense change affects ACADS function (PMID: 11134486). For these reasons, this variant has been classified as Pathogenic.
Genome-Nilou Lab RCV000004039 SCV002033255 likely pathogenic Deficiency of butyryl-CoA dehydrogenase 2021-11-07 criteria provided, single submitter clinical testing
OMIM RCV000004039 SCV000024205 pathogenic Deficiency of butyryl-CoA dehydrogenase 2001-01-01 no assertion criteria provided literature only

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