ClinVar Miner

Submissions for variant NM_000018.4(ACADVL):c.296_297CA[1] (p.Gln100fs) (rs786204713)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000169528 SCV000221005 likely pathogenic Very long chain acyl-CoA dehydrogenase deficiency 2015-01-06 criteria provided, single submitter literature only
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000724267 SCV000230829 pathogenic not provided 2014-09-08 criteria provided, single submitter clinical testing
Invitae RCV000169528 SCV000654949 pathogenic Very long chain acyl-CoA dehydrogenase deficiency 2016-11-22 criteria provided, single submitter clinical testing This sequence change deletes 2 nucleotides from exon 5 of the ACADVL mRNA (c.298_299delCA), causing a frameshift at codon 100. This creates a premature translational stop signal (p.Gln100Valfs*3) and is expected to result in an absent or disrupted protein product. Loss-of-function variants in ACADVL are known to be pathogenic. This particular variant, which is also known as c.296_297del in the literature, has been reported in an individual affected with very-long-chain acyl-CoA dehydrogenase deficiency (PMID: 9973285). For these reasons, this variant has been classified as Pathogenic.

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