ClinVar Miner

Submissions for variant NM_000244.3(MEN1):c.1563dup (p.Lys522fs) (rs761695866)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000182442 SCV000234787 pathogenic not provided 2014-02-24 criteria provided, single submitter clinical testing The c.1548dupG mutation in the MEN1 gene has been reported previously in association with multiple endocrine neoplasia type 1 (MEN1) (Bartsch et al., 1998). The normal sequence with the base that is inserted in braces is: CCGG{G}AAGC.The insertion causes a frameshift starting with codon Lysine 517, changes this amino acid to a Glutamic Acid residue and creates a premature Stop codon at position 14 of the new reading frame, denoted p.Lys517GlufsX14. This mutation is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. The variant is found in MEN1 panel(s).

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