ClinVar Miner

Submissions for variant NM_000244.3(MEN1):c.1617_1633dup (p.Pro545fs) (rs794728660)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000182463 SCV000234808 pathogenic not provided 2014-01-31 criteria provided, single submitter clinical testing The c.1602_1618dupGGCTCAGGTGCCAGCAC mutation in the MEN1 gene has been reported previously in association with multiple endocrine neoplasia type 1 (Klein et al., 2005). The normal sequence with the bases that are inserted in braces is: GCAC{GGCTCAGGTGCCAGCAC}CCGC. The insertion causes a frameshift starting with codon Proline 540, changes this amino acid to an Arginine residue and creates a premature Stop codon at position 25 of the new reading frame, denoted p.Pro540ArgfsX25. This mutation is predicted to cause loss of normal protein function by causing the loss of the last 71 correct residues and replacing them with 24 incorrect residues. The variant is found in MEN1 panel(s).

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