ClinVar Miner

Submissions for variant NM_000244.3(MEN1):c.1366-2_*132del (rs1565634591)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000704250 SCV000833191 pathogenic Multiple endocrine neoplasia, type 1 2018-05-17 criteria provided, single submitter clinical testing This variant is a gross deletion of the genomic region encompassing exon 10 of the MEN1 gene. The 5' boundary is located at c.1351-2 and the 3' end of this event is located at c.*132. While this deletion is not anticipated to result in nonsense mediated decay, it is expected to create a truncated protein product. Similar deletions of exon 10 of the MEN1 gene have been reported in an individual affected with multiple endocrine neoplasia type 1 (Invitae) and individuals in the Universal Mutation Database (PMID: 10612827). This deletion removes 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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