ClinVar Miner

Submissions for variant NM_000017.4(ACADS):c.596C>T (p.Ala199Val) (rs766579880)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Molecular Diagnostics Laboratory, M Health Fairview: University of Minnesota RCV000761220 SCV000891174 likely pathogenic Deficiency of butyryl-CoA dehydrogenase 2017-12-15 criteria provided, single submitter clinical testing
Invitae RCV000761220 SCV000960558 uncertain significance Deficiency of butyryl-CoA dehydrogenase 2020-02-18 criteria provided, single submitter clinical testing This sequence change replaces alanine with valine at codon 199 of the ACADS protein (p.Ala199Val). The alanine residue is highly conserved and there is a small physicochemical difference between alanine and valine. This variant is present in population databases (rs766579880, ExAC 0.009%). This variant has been observed in individuals affected with short-chain acyl-coenzyme A dehydrogenase deficiency (PMID: 18523805, 28263315). Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be disruptive, but these predictions have not been confirmed by published functional studies and their clinical significance is uncertain. 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.

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