ClinVar Miner

Submissions for variant NM_001370259.2(MEN1):c.1413G>A (p.Trp471Ter)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001213347 SCV001384973 pathogenic Multiple endocrine neoplasia, type 1 2019-09-16 criteria provided, single submitter clinical testing This sequence change results in a premature translational stop signal in the MEN1 gene (p.Trp471*). While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 140 amino acids of the MEN1 protein. This variant is not present in population databases (ExAC no frequency). This variant has been observed to segregate with multiple endocrine neoplasia type 1 in a family (PMID: 10435055), and has been identified in an unrelated individual affected with multiple endocrine neoplasia type 1 (PMID: 10090472) This variant is expected to disrupt the conserved NLS2 domain of the MEN1 protein. Experimental studies have shown that disruption of this region abrogates the ability of MEN1 to bind DNA, regulate target gene expression, and inhibit cell proliferation (PMID: 15331604, 16449969) For these reasons, this variant has been classified as Pathogenic.

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