ClinVar Miner

Submissions for variant NM_000244.3(MEN1):c.1356del (p.Phe452fs) (rs794728643)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000182440 SCV000234785 pathogenic not provided 2014-07-24 criteria provided, single submitter clinical testing The c.1341delT mutation in the MEN1 gene causes a frameshift starting with codon Phenylalanine 447, changes this amino acid to a Leucine residue and creates a premature Stop codon at position 11 of the new reading frame, denoted p.Phe447LeufsX11. The normal sequence with the base that is deleted in braces is: GTTT{T}GAGG. This mutation is predicted to cause loss of normal protein function through protein truncation as the last 164 amino acids are replaced with 10 aberrant amino acids. Another deletion at this same position (c.1340_1341delTT) has been reported, using alternative nomenclature, in association with multiple endocrine neoplasia type 1 (Wautot et al., 2002), supporting the functional importance of this region of the protein. Although this particular 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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