ClinVar Miner

Submissions for variant NM_000017.4(ACADS):c.417G>C (p.Trp139Cys)

gnomAD frequency: 0.00004  dbSNP: rs149107232
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000727659 SCV000854963 likely pathogenic not provided 2017-10-06 criteria provided, single submitter clinical testing
Invitae RCV001349386 SCV001543729 likely pathogenic Deficiency of butyryl-CoA dehydrogenase 2023-12-19 criteria provided, single submitter clinical testing This sequence change replaces tryptophan, which is neutral and slightly polar, with cysteine, which is neutral and slightly polar, at codon 139 of the ACADS protein (p.Trp139Cys). This variant is present in population databases (rs149107232, gnomAD 0.01%). This missense change has been observed in individuals with short-chain acyl-coenzyme A dehydrogenase deficiency (PMID: 12872838; Invitae). ClinVar contains an entry for this variant (Variation ID: 592592). 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 95%. Experimental studies have shown that this missense change affects ACADS function (PMID: 12872838). In summary, the currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as Likely Pathogenic.
Genome-Nilou Lab RCV001349386 SCV002033241 uncertain significance Deficiency of butyryl-CoA dehydrogenase 2021-11-07 criteria provided, single submitter clinical testing

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