ClinVar Miner

Submissions for variant NM_000244.3(MEN1):c.55del (p.Val19fs) (rs794728655)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000182457 SCV000234802 pathogenic not provided 2010-05-11 criteria provided, single submitter clinical testing The c.55delG mutation in the MEN1 gene causes a frameshift starting with codon Valine 19, changes this amino acid to a Tryptophan residue and creates a premature Stop codon at position 100 of the new reading frame, denoted p.Val19TrpfsX100. The normal sequence with the base that is deleted in braces is: CGAC{G}TGGT. This mutation is predicted to result in nonsense mediated mRNA decay or in premature protein truncation. While this mutation has not been reported previously in the literature, to our knowledge, its presence is consistent with a diagnosis of multiple endocrine neoplasia type 1. The variant is found in MEN1 panel(s).

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