ClinVar Miner

Submissions for variant NM_000018.4(ACADVL):c.199A>T (p.Lys67Ter) (rs765432568)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000755772 SCV000883336 pathogenic not provided 2017-06-08 criteria provided, single submitter clinical testing The ACADVL c.199A>T; p.Lys67Ter variant induces an early termination codon and is predicted to result in a truncated protein or absent transcript. This variant has been reported once in the literature in a positive newborn screen for very long chain acyl-coA dehydrogenase (VLCAD) deficiency (Miller 2015), but is absent from general population databases (1000 Genomes Project, Exome Variant Server, Genome Aggregation Database). Taken together, this variant is considered pathogenic. REFERENCES Miller MJ et al. Recurrent ACADVL molecular findings in individuals with a positive newborn screen for very long chain acyl-coA dehydrogenase (VLCAD) deficiency in the United States. Mol Genet Metab. 2015 Nov;116(3):139-45.

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