ClinVar Miner

Submissions for variant NM_001370259.2(MEN1):c.746_749dup (p.Thr251fs)

dbSNP: rs1592648830
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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 RCV000796395 SCV000935907 pathogenic Multiple endocrine neoplasia, type 1 2018-10-26 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Thr251Alafs*20) in the MEN1 gene. It is expected to result in an absent or disrupted protein product. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with MEN1-related disease. Loss-of-function variants in MEN1 are known to be pathogenic (PMID: 12112656, 17853334). For these reasons, this variant has been classified as Pathogenic.

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