ClinVar Miner

Submissions for variant NM_000017.4(ACADS):c.1207G>A (p.Ala403Thr)

gnomAD frequency: 0.00001  dbSNP: rs556890619
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001034855 SCV001198155 uncertain significance Deficiency of butyryl-CoA dehydrogenase 2021-08-28 criteria provided, single submitter clinical testing This sequence change replaces alanine with threonine at codon 403 of the ACADS protein (p.Ala403Thr). The alanine residue is highly conserved and there is a small physicochemical difference between alanine and threonine. This variant is present in population databases (rs556890619, ExAC 0.09%). This variant has not been reported in the literature in individuals affected with ACADS-related conditions. Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). 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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