ClinVar Miner

Submissions for variant NM_004453.4(ETFDH):c.1351G>C (p.Val451Leu)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001053110 SCV001217354 pathogenic Multiple acyl-CoA dehydrogenase deficiency 2019-12-04 criteria provided, single submitter clinical testing This sequence change replaces valine with leucine at codon 451 of the ETFDH protein (p.Val451Leu). The valine residue is highly conserved and there is a small physicochemical difference between valine and leucine. This variant is present in population databases (rs558005496, ExAC 0.003%). This variant has been observed in individual with glutaric aciduria type 2 (PMID: 17584774, Invitae). In at least one individual the data is consistent with the variant being in trans (on the opposite chromosome) from a pathogenic variant. This variant is also known as 1168G>C (p.V390L) in the literature. This variant has been reported to affect ETFDH protein function (PMID: 23727839). For these reasons, this variant has been classified as Pathogenic.

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