ClinVar Miner

Submissions for variant NM_000244.3(MEN1):c.796C>T (p.Gln266Ter) (rs1057520733)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000419478 SCV000517210 pathogenic not provided 2018-02-02 criteria provided, single submitter clinical testing The Q261X nonsense variant in the MEN1 gene has previously been reported in multiple individuals with multiple endocrine neoplasia type 1 (Giraud et al., 1998; Cebrian et al., 2002; Cebrian et al., 2003; Vithian et al., 2011). This variant is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. The Q261X variant is not observed in large population cohorts (Lek et al., 2016). Based on currently available evidence, we consider Q261X to be pathogenic.
Invitae RCV000554384 SCV000628102 pathogenic Multiple endocrine neoplasia, type 1 2019-07-03 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Gln261*) 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 particular variant has been reported in the literature in individuals with multiple endocrine neoplasia Type 1 (PMID: 9683585, 21369528). Loss-of-function variants in MEN1 are known to be pathogenic (PMID: 17853334, 12112656). For these reasons, this variant has been classified as Pathogenic.

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