ClinVar Miner

Submissions for variant NM_000018.4(ACADVL):c.932del (p.Phe311fs) (rs764488310)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000670204 SCV000795034 likely pathogenic Very long chain acyl-CoA dehydrogenase deficiency 2017-10-25 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories RCV000670204 SCV001477815 pathogenic Very long chain acyl-CoA dehydrogenase deficiency 2020-03-19 criteria provided, single submitter clinical testing The ACADVL c.932delT; p.Phe311fs variant (rs764488310) is reported in the literature in an infant who had VLCAD deficiency and dilated cardiomyopathy (Mathur 1999). This variant is also reported in the ClinVar database (Variation ID: 554546). It is only observed on one allele in the Genome Aggregation Database, indicating it is not a common polymorphism. This variant causes a frameshift by deleting a single nucleotide, so it is predicted to result in a truncated protein or mRNA subject to nonsense-mediated decay. Based on available information, this variant is considered to be pathogenic. REFERENCES Mathur A et al. Molecular heterogeneity in very-long-chain acyl-CoA dehydrogenase deficiency causing pediatric cardiomyopathy and sudden death. Circulation. 1999 Mar 16;99(10):1337-43.
Invitae RCV000670204 SCV001585422 pathogenic Very long chain acyl-CoA dehydrogenase deficiency 2020-03-24 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Phe311Serfs*42) in the ACADVL gene. It is expected to result in an absent or disrupted protein product. This variant is present in population databases (rs764488310, ExAC 0.002%). This variant has been observed in individual(s) with very long-chain acyl-CoA dehydrogenase deficiency (PMID: 10077518). ClinVar contains an entry for this variant (Variation ID: 554546). 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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