ClinVar Miner

Submissions for variant NM_001370259.2(MEN1):c.739_745del (p.Ile247fs)

dbSNP: rs1555165503
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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 RCV000524643 SCV000628100 pathogenic Multiple endocrine neoplasia, type 1 2023-05-04 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Ile247Cysfs*32) in 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 (PMID: 12112656, 17853334). This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with MEN1-related conditions. ClinVar contains an entry for this variant (Variation ID: 457337). For these reasons, this variant has been classified as Pathogenic.

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