ClinVar Miner

Submissions for variant NM_000244.3(MEN1):c.147dup (p.Val50fs) (rs794728638)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000182432 SCV000234777 pathogenic not provided 2013-07-25 criteria provided, single submitter clinical testing The c.147dupT mutation in the MEN1 gene causes a frameshift starting with codon Valine 50, changes this amino acid to a Cysteine residue and creates a premature Stop codon at position 67 of the new reading frame, denoted p.Val50CysfsX67. The normal sequence with the base that is inserted in braces is: GGCT{T}GTCA. This mutation is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. Although this mutation has not been previously reported 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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