ClinVar Miner

Submissions for variant NM_000018.4(ACADVL):c.1009C>T (p.Leu337Phe)

dbSNP: rs1567565656
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000691839 SCV000819635 uncertain significance Very long chain acyl-CoA dehydrogenase deficiency 2021-08-31 criteria provided, single submitter clinical testing
GeneDx RCV001575404 SCV001802391 uncertain significance not provided 2020-09-23 criteria provided, single submitter clinical testing Identified heterozygous in one infant with 31% residual activity and no second variant described (Hoffmnn et al., 2012).; Not observed in large population cohorts (Lek et al., 2016); In silico analysis, which includes protein predictors and evolutionary conservation, supports a deleterious effect; Computational modeling predicts L337F (L297F) lies near the catalytic center possibly affecting substrate binding (Hoffmann et al., 2012); This variant is associated with the following publications: (PMID: 21932095, 25242572)

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