ClinVar Miner

Submissions for variant NM_000244.3(MEN1):c.79_88del (p.Leu27fs) (rs794728637)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000182431 SCV000234776 pathogenic not provided 2013-07-10 criteria provided, single submitter clinical testing The c.79_88delCTGGGCCGAG mutation in the MEN1 gene causes a frameshift starting with codon Leucine 27, changes this amino acid to an Arginine residue, and creates a premature Stop codon at position 89 of the new reading frame, denoted p.Leu27ArgfsX89. The normal sequence with the bases that are deleted in braces is: CGAG{delCTGGGCCGAG}AGGA This mutation is predicted to cause loss of normal protein function through protein truncation. This mutation has not been previously reported to our knowledge. The variant is found in MEN1 panel(s).

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