ClinVar Miner

Submissions for variant NM_000017.4(ACADS):c.973C>T (p.Arg325Trp) (rs121908006)

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Total submissions: 3
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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 uncertain significance Deficiency of butyryl-CoA dehydrogenase 2019-04-12 criteria provided, single submitter clinical testing This sequence change replaces arginine with tryptophan at codon 325 of the ACADS protein (p.Arg325Trp). The arginine residue is highly conserved and there is a moderate physicochemical difference between arginine and tryptophan. This variant is present in population databases (rs121908006, ExAC 0.006%). This variant has been observed in individuals affected with short-chain acyl-coA dehydrogenase (SCAD) deficiency (PMID: 11134486, Invitae). In at least one individual the data is consistent with the variant being in trans (on the opposite chromosome) from a pathogenic variant. ClinVar contains an entry for this variant (Variation ID: 3835). This variant has been reported to affect ACADS protein function (PMID: 11134486). In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.
OMIM RCV000004039 SCV000024205 pathogenic Deficiency of butyryl-CoA dehydrogenase 2001-01-01 no assertion criteria provided literature only

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