ClinVar Miner

Submissions for variant NM_000018.4(ACADVL):c.1368dup (p.Ile457fs)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000818697 SCV000959323 pathogenic Very long chain acyl-CoA dehydrogenase deficiency 2018-09-28 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Ile457Hisfs*6) 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 in an individual who was positive for VLCADD newborn screening (PMID: 26385305). 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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