ClinVar Miner

Submissions for variant NM_000017.4(ACADS):c.1057T>C (p.Ser353Pro)

gnomAD frequency: 0.00003  dbSNP: rs796051904
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000673078 SCV000798246 uncertain significance Deficiency of butyryl-CoA dehydrogenase 2018-03-09 criteria provided, single submitter clinical testing
Invitae RCV000673078 SCV001207959 uncertain significance Deficiency of butyryl-CoA dehydrogenase 2019-03-19 criteria provided, single submitter clinical testing 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. 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"). This variant has been observed in an individual affected with short-chain acyl-coenzyme A dehydrogenase deficiency (PMID: 22424739). ClinVar contains an entry for this variant (Variation ID: 203559). This variant is not present in population databases (ExAC no frequency). This sequence change replaces serine with proline at codon 353 of the ACADS protein (p.Ser353Pro). The serine residue is highly conserved and there is a moderate physicochemical difference between serine and proline.
Genome-Nilou Lab RCV000673078 SCV002033272 uncertain significance Deficiency of butyryl-CoA dehydrogenase 2021-11-07 criteria provided, single submitter clinical testing

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