ClinVar Miner

Submissions for variant NM_000018.4(ACADVL):c.1372T>C (p.Phe458Leu) (rs118204017)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000001699 SCV000949146 pathogenic Very long chain acyl-CoA dehydrogenase deficiency 2018-11-12 criteria provided, single submitter clinical testing This sequence change replaces phenylalanine with leucine at codon 458 of the ACADVL protein (p.Phe458Leu). The phenylalanine residue is highly conserved and there is a small physicochemical difference between phenylalanine and leucine. This variant is not present in population databases (ExAC no frequency). This variant has been observed on the opposite chromosome (in trans) from other pathogenic variants in individuals affected with VLCAD deficiency (PMID: 9709714, 10738914). This finding is consistent with autosomal recessive inheritance, and suggests that this variant contributes to disease. ClinVar contains an entry for this variant (Variation ID: 1632). Experimental studies have shown that this missense change abrogates ACADVL protein enzymatic activity (PMID: 9709714, 10738914). For these reasons, this variant has been classified as Pathogenic.
OMIM RCV000001699 SCV000021855 pathogenic Very long chain acyl-CoA dehydrogenase deficiency 1998-08-01 no assertion criteria provided literature only

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