ClinVar Miner

Submissions for variant NM_000017.4(ACADS):c.575C>T (p.Ala192Val)

gnomAD frequency: 0.00006  dbSNP: rs28940874
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000004038 SCV000756745 likely pathogenic Deficiency of butyryl-CoA dehydrogenase 2023-08-04 criteria provided, single submitter clinical testing 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. Experimental studies have shown that this missense change affects ACADS function (PMID: 11134486). 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. ClinVar contains an entry for this variant (Variation ID: 3834). This missense change has been observed in individuals with SCAD deficiency (PMID: 11134486; Invitae). This variant is present in population databases (rs28940874, gnomAD 0.01%). This sequence change replaces alanine, which is neutral and non-polar, with valine, which is neutral and non-polar, at codon 192 of the ACADS protein (p.Ala192Val).
GeneDx RCV001562350 SCV001785101 likely pathogenic not provided 2020-10-20 criteria provided, single submitter clinical testing Expression studies in E. coli found that this variant is associated with undetectable SCAD enzyme activity (Corydon et al., 200)1; Not observed at a significant frequency in large population cohorts (Lek et al., 2016); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; This variant is associated with the following publications: (PMID: 18523805, 11134486)
Genome-Nilou Lab RCV000004038 SCV002033244 likely pathogenic Deficiency of butyryl-CoA dehydrogenase 2021-11-07 criteria provided, single submitter clinical testing
Revvity Omics, Revvity RCV000004038 SCV003822461 uncertain significance Deficiency of butyryl-CoA dehydrogenase 2020-12-22 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV000004038 SCV005632322 likely pathogenic Deficiency of butyryl-CoA dehydrogenase 2024-02-06 criteria provided, single submitter clinical testing
OMIM RCV000004038 SCV000024204 pathogenic Deficiency of butyryl-CoA dehydrogenase 2001-01-01 no assertion criteria provided literature only

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