ClinVar Miner

Submissions for variant NM_001370259.2(MEN1):c.1311del (p.Thr438fs)

dbSNP: rs1555164184
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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 RCV000806153 SCV000946135 pathogenic Multiple endocrine neoplasia, type 1 2018-08-20 criteria provided, single submitter clinical testing This sequence change results in a premature translational stop signal in the MEN1 gene (p.Thr438Profs*7). While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 173 amino acids of the MEN1 protein. For these reasons, this variant has been classified as Pathogenic. A different truncation (p.Arg516Glyfs*43) that lies downstream of this variant has been determined to be pathogenic (PMID: 9215689, 12112656, 17879353, 23321498). This suggests that deletion of this region of the MEN1 protein is causative of disease. This variant has not been reported in the literature in individuals with MEN1-related disease. This variant is not present in population databases (ExAC no frequency).

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