ClinVar Miner

Submissions for variant NM_000018.4(ACADVL):c.956C>A (p.Ser319Ter) (rs149467828)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000673848 SCV000799096 likely pathogenic Very long chain acyl-CoA dehydrogenase deficiency 2018-04-12 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories RCV000673848 SCV001473604 pathogenic Very long chain acyl-CoA dehydrogenase deficiency 2020-04-16 criteria provided, single submitter clinical testing The ACADVL c.956C>A p.Ser319Ter variant (rs149467828) is reported in the literature in at least one individual affected with very long-chain acyl-coenzyme A dehydrogenase (VLCAD) deficiency (Pena 2016). This variant is reported in ClinVar (Variation ID: 557676), and is only observed on one allele in the Genome Aggregation Database, indicating it is not a common polymorphism. This variant induces an early termination codon and is predicted to result in a truncated protein or mRNA subject to nonsense-mediated decay. Additionally, several downstream truncating variants have been described in individuals with VLCAD deficiency and are considered pathogenic (Pena 2016). Based on available information, this variant is considered to be pathogenic. References: Pena LD et al. Outcomes and genotype-phenotype correlations in 52 individuals with VLCAD deficiency diagnosed by NBS and enrolled in the IBEM-IS database. Mol Genet Metab. 2016 Aug;118(4):272-81.

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