ClinVar Miner

Submissions for variant NM_004453.4(ETFDH):c.1414G>A (p.Gly472Arg) (rs746598421)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000554634 SCV000631955 pathogenic Multiple acyl-CoA dehydrogenase deficiency 2020-08-31 criteria provided, single submitter clinical testing This sequence change replaces glycine with arginine at codon 472 of the ETFDH protein (p.Gly472Arg). The glycine residue is highly conserved and there is a moderate physicochemical difference between glycine and arginine. This variant is present in population databases (rs746598421, ExAC 0.02%). This variant has been observed in individual(s) with multiple Acyl-CoA dehydrogenase deficiency (PMID: 12815589, 31268564, Invitae). Experimental studies have shown that this variant affects ETFDH protein function (PMID: 12815589, 31268564). For these reasons, this variant has been classified as Pathogenic.
Department of Genetics,Sultan Qaboos University Hospital, Oman RCV000554634 SCV000891580 uncertain significance Multiple acyl-CoA dehydrogenase deficiency 2017-12-30 criteria provided, single submitter curation

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