ClinVar Miner

Submissions for variant NM_000126.4(ETFA):c.871A>C (p.Lys291Gln)

dbSNP: rs1184566559
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000699658 SCV000828378 uncertain significance Multiple acyl-CoA dehydrogenase deficiency 2022-09-24 criteria provided, single submitter clinical testing ClinVar contains an entry for this variant (Variation ID: 577009). 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 (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be disruptive. This variant has not been reported in the literature in individuals affected with ETFA-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change replaces lysine, which is basic and polar, with glutamine, which is neutral and polar, at codon 291 of the ETFA protein (p.Lys291Gln).

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