ClinVar Miner

Submissions for variant NM_000244.3(MEN1):c.1351del (p.Arg451fs) (rs886041746)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000350439 SCV000330489 pathogenic not provided 2016-05-04 criteria provided, single submitter clinical testing The c.1336delC variant in the MEN1 gene causes a frameshift starting with codon Arginine 446, changes this amino acid to a Valine residue and creates a premature Stop codon at position 12 of the new reading frame, denoted p.Arg446ValfsX12. This pathogenic variant is predicted to cause loss of normal protein function through protein truncation.

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