ClinVar Miner

Submissions for variant NM_000244.3(MEN1):c.346G>T (p.Glu116Ter) (rs1060499992)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000469372 SCV000541233 pathogenic Multiple endocrine neoplasia, type 1 2016-11-18 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal at codon 116 (p.Glu116*) of the MEN1 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in MEN1 are known to be pathogenic. This particular variant has been reported in the literature in individuals affected with multiple endocrine neoplasia type 1 (PMID: 17235589). For these reasons, this variant has been classified as Pathogenic.

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