ClinVar Miner

Submissions for variant NM_000244.3(MEN1):c.1262dup (p.Tyr422fs) (rs1555164305)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000657442 SCV000779177 pathogenic not provided 2018-01-09 criteria provided, single submitter clinical testing This duplication of one nucleotide in MEN1 is denoted c.1247dupT at the cDNA level and p.Tyr417LeufsX32 (Y417LfsX32) at the protein level. The normal sequence, with the base that is duplicated in brackets, is CGAT[dupT]CTAC. The duplication causes a frameshift which changes a Tyrosine to a Leucine at codon 417, and creates a premature stop codon at position 32 of the new reading frame. Although this variant has not, to our knowledge, been reported in the literature, it is predicted to cause loss of normal protein function through protein truncation. The disrupted region at the end of the gene includes the nuclear localization signals and several modified residues (Guru 1998, UniProt). We consider MEN1 c.1247dupT to be pathogenic.

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