ClinVar Miner

Submissions for variant NM_000244.3(MEN1):c.292C>T (p.Arg98Ter) (rs886039413)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000255438 SCV000321878 pathogenic not provided 2016-07-29 criteria provided, single submitter clinical testing The R98X variant in the MEN1 gene has been reported previously in association with multiple endocrine neoplasia type 1 (for examples, see Wautot et al., 2002; Giacche et al., 2012; Christakis et al., 2016). This variant has been identified in the germline of 1.5% of families diagnosed with MEN1 (Lemos and Thakker, 2008; Thakker et al., 2010). This variant is predicted to cause loss of normal protein function either through protein truncation of nonsense-mediated mRNA decay. Based on currently available evidence, we consider R98X to be pathogenic.
Invitae RCV001244528 SCV001417754 pathogenic Multiple endocrine neoplasia, type 1 2019-11-07 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Arg98*) in the MEN1 gene. It is expected to result in an absent or disrupted protein product. This variant is not present in population databases (ExAC no frequency). This variant has been observed in individual(s) with multiple endocrine neoplasia type 1 (PMID: 17879353). ClinVar contains an entry for this variant (Variation ID: 265234). Loss-of-function variants in MEN1 are known to be pathogenic (PMID: 12112656, 17853334). For these reasons, this variant has been classified as Pathogenic.

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