ClinVar Miner

Submissions for variant NM_000018.4(ACADVL):c.996dup (p.Ala333fs) (rs1057516843)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000409885 SCV000486313 likely pathogenic Very long chain acyl-CoA dehydrogenase deficiency 2016-05-11 criteria provided, single submitter clinical testing
Invitae RCV000409885 SCV000773909 pathogenic Very long chain acyl-CoA dehydrogenase deficiency 2018-02-22 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Ala333Cysfs*26) in the ACADVL gene. It is expected to result in an absent or disrupted protein product. This variant is not present in population databases (ExAC no frequency). This variant has been observed on the opposite chromosome (in trans) from another ACADVL variant in an individual affected with very long chain acyl coenzyme A (CoA) dehydrogenase deficiency (PMID: 25242572). ClinVar contains an entry for this variant (Variation ID: 370886). Loss-of-function variants in ACADVL are known to be pathogenic (PMID: 9973285, 11590124). For these reasons, this variant has been classified as Pathogenic.

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