ClinVar Miner

Submissions for variant NM_001609.4(ACADSB):c.154G>A (p.Ala52Thr)

gnomAD frequency: 0.00001  dbSNP: rs1164586012
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001217992 SCV001389856 uncertain significance Deficiency of 2-methylbutyryl-CoA dehydrogenase 2023-05-22 criteria provided, single submitter clinical testing This sequence change replaces alanine, which is neutral and non-polar, with threonine, which is neutral and polar, at codon 52 of the ACADSB protein (p.Ala52Thr). This variant is present in population databases (no rsID available, gnomAD 0.01%). This variant has not been reported in the literature in individuals affected with ACADSB-related conditions. ClinVar contains an entry for this variant (Variation ID: 947014). 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 threonine 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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