ClinVar Miner

Submissions for variant NM_000244.3(MEN1):c.1550C>G (p.Ser517Ter) (rs141679530)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000550819 SCV000628056 pathogenic Multiple endocrine neoplasia, type 1 2017-04-14 criteria provided, single submitter clinical testing This sequence change results in a premature translational stop signal in the last exon of the MEN1 mRNA at codon 512 (p.Ser512*). While this is not anticipated to result in nonsense mediated decay, it is expected to delete the last 99 amino acids of the MEN1 protein. This variant is not present in population databases (ExAC no frequency) and has not been reported in the literature in individuals with a MEN1-related disease. This variant truncates the functionally conserved nuclear localization signal 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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