ClinVar Miner

Submissions for variant NM_001370259.2(MEN1):c.252dup (p.Ile85fs)

dbSNP: rs386134253
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000030201 SCV000052868 likely pathogenic Multiple endocrine neoplasia, type 1 2011-08-18 criteria provided, single submitter curation Converted during submission to Likely pathogenic.
Labcorp Genetics (formerly Invitae), Labcorp RCV000030201 SCV001229141 pathogenic Multiple endocrine neoplasia, type 1 2019-02-27 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. Loss-of-function variants in MEN1 are known to be pathogenic (PMID: 12112656, 17853334). This variant has been reported in individuals in the Universal Mutation Database (PMID: 10612827). ClinVar contains an entry for this variant (Variation ID: 36528). This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Ile85Tyrfs*32) in the MEN1 gene. It is expected to result in an absent or disrupted protein product.

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