ClinVar Miner

Submissions for variant NM_004453.4(ETFDH):c.1450T>C (p.Trp484Arg)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001050937 SCV001215069 pathogenic Multiple acyl-CoA dehydrogenase deficiency 2019-12-03 criteria provided, single submitter clinical testing This sequence change replaces tryptophan with arginine at codon 484 of the ETFDH protein (p.Trp484Arg). The tryptophan residue is highly conserved and there is a moderate physicochemical difference between tryptophan and arginine. This variant is not present in population databases (ExAC no frequency). This variant has been observed in individuals with riboflavin responsive multiple acyl-CoA dehydrogenase deficiency (PMID: 25827849, 29988809, 30022752). In at least one individual the data is consistent with the variant being in trans (on the opposite chromosome) from a pathogenic variant. 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"). For these reasons, this variant has been classified as Pathogenic.

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