ClinVar Miner

Submissions for variant NM_000244.3(MEN1):c.1444dup (p.Glu482fs) (rs886041214)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000363690 SCV000329423 pathogenic not provided 2017-12-27 criteria provided, single submitter clinical testing TThe c.1429dupG variant in the MEN1 gene has been previously reported in association with multiple endocrine neoplasia type 1 (Poncin et al., 1999). This duplication causes a frameshift starting with codon Glutamic Acid 477, changes this amino acid to a Glycine residue and creates a premature Stop codon at position 54 of the new reading frame, denoted p.Glu477GlyfsX54. This variant is predicted to cause loss of normal protein function through protein truncation. The c.1429dupG is not observed in large population cohorts (Lek et al., 2016). Based on currently available evidence, we consider c.1429dupG to be pathogenic.

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