ClinVar Miner

Submissions for variant NM_000018.4(ACADVL):c.739A>C (p.Lys247Gln)

dbSNP: rs387906253
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
NxGen MDx RCV001250508 SCV001167357 uncertain significance Very long chain acyl-CoA dehydrogenase deficiency 2019-11-04 criteria provided, single submitter clinical testing This is a nonconservative change that is predicted to be damaging (PP3) and has been reported in the literature only as part of a pathogenic compound allele (with c.194C>T). This variant is not present in GnomAD Exomes (PM2). Other changes at this position, p.Lys247Glu and p.Lys247Thr, have been classifed by Uniprot as disease-associated; however, p.Lys247Glu is reported as a VUS in ClinVar.

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