ClinVar Miner

Submissions for variant NM_001370259.2(MEN1):c.1674dup (p.Lys559fs)

dbSNP: rs1565635941
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000689715 SCV000817380 pathogenic Multiple endocrine neoplasia, type 1 2018-05-20 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. This variant is not present in population databases (ExAC no frequency). This sequence change results in a premature translational stop signal in the MEN1 gene (p.Lys559Glufs*38). While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 52 amino acids of the MEN1 protein. This variant has been reported in an individual affected with multiple endocrine neoplasia type 1 (PMID: 10090472 ). This frameshift change truncates the functionally 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).

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