ClinVar Miner

Submissions for variant NM_000018.4(ACADVL):c.1730_1740del (p.Ala577fs) (rs1057518411)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000413684 SCV000492019 pathogenic not provided 2016-11-23 criteria provided, single submitter clinical testing The c.1730_1740del11 pathogenic variant in the ACADVL gene causes a frameshift starting with codon Alanine 577, changes this amino acid to a Glycine residue and creates a premature Stop codon at position 11 of the new reading frame, denoted p.Ala577GlyfsX11. This pathogenic variant is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. Although this variant has not been previously reported to our knowledge, it is predicted to be a pathogenic variant.

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