ClinVar Miner

Submissions for variant NM_000018.4(ACADVL):c.428_467del (p.Gly143fs) (rs758144859)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000480851 SCV000572612 pathogenic not provided 2018-04-18 criteria provided, single submitter clinical testing The c.428_467del40 variant in the ACADVL gene has been reported previously in association with very long chain acyl-coA dehydrogenase (VLCAD) deficiency (Miller et al. 2015). The c.428_467del40 variant was not observed in approximately 6500 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, indicating it is not a common benign variant in these populations. The c.428_467del40 variant causes a frameshift starting with codon Glycine 143, changes this amino acid to an Alanine residue and creates a premature Stop codon at position 61 of the new reading frame, denoted p.Gly142AlafsX61. This pathogenic variant is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. In summary, we interpret c.428_467del40 to be a pathogenic variant.
Counsyl RCV000671508 SCV000796491 likely pathogenic Very long chain acyl-CoA dehydrogenase deficiency 2017-12-18 no assertion criteria provided clinical testing

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