ClinVar Miner

Submissions for variant NM_000018.4(ACADVL):c.1316dup (p.Met440fs) (rs748077880)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000185738 SCV000238666 pathogenic not provided 2014-06-13 criteria provided, single submitter clinical testing The c.1316dupG mutation in the ACADVL gene causes a frameshift starting with codon Methionine 440, changes this amino acid to a Tyrosine residue and creates a premature Stop codon at position 23 of the new reading frame, denoted p.Met440TyrfsX23. The normal sequence with the base that is duplicated in braces is: TGGGGG{G}TATG. This mutation is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. Although this mutation has not been previously reported to our knowledge, it is expected to be a pathogenic mutation. The variant is found in ACADVL panel(s).

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