ClinVar Miner

Submissions for variant NM_000017.4(ACADS):c.47C>T (p.Ala16Val)

gnomAD frequency: 0.00033  dbSNP: rs147494970
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001045267 SCV001209107 uncertain significance Deficiency of butyryl-CoA dehydrogenase 2023-12-18 criteria provided, single submitter clinical testing This sequence change replaces alanine, which is neutral and non-polar, with valine, which is neutral and non-polar, at codon 16 of the ACADS protein (p.Ala16Val). This variant is present in population databases (rs147494970, gnomAD 0.07%). This variant has not been reported in the literature in individuals affected with ACADS-related conditions. ClinVar contains an entry for this variant (Variation ID: 203568). Algorithms developed to predict the effect of missense changes on protein structure and function output the following: SIFT: "Not Available"; PolyPhen-2: "Benign"; Align-GVGD: "Not Available". The valine amino acid residue is found in multiple mammalian species, which suggests that this missense change does not adversely affect protein function. 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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