ClinVar Miner

Submissions for variant NM_000018.4(ACADVL):c.316_325del (p.Val106fs) (rs1057518506)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000412713 SCV000492224 pathogenic not provided 2016-11-22 criteria provided, single submitter clinical testing The c.316_325del10 variant in the ACADVL gene has not been published as a pathogenic variant, nor has it been reported as a benign variant to our knowledge. The c.316_325del10 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.316_325del10 variant causes a frameshift starting with codon Valine 106, changes this amino acid to a Cysteine residue and creates a premature Stop codon at position 8 of the new reading frame, denoted p.Val106CysfsX8. This variant is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. In summary, we interpret c.316_325del10 to be pathogenic.

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