ClinVar Miner

Submissions for variant NM_001370259.2(MEN1):c.795G>A (p.Trp265Ter)

dbSNP: rs1592647398
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000808722 SCV000948839 pathogenic Multiple endocrine neoplasia, type 1 2018-12-26 criteria provided, single submitter clinical testing This nonsense change has been observed to be de novo in an affected with multiple endocrine neoplasia, type 1 (PMID: 9215689). It has also been observed in an individual affected with hyperparathyroidism and thymus carcinoids (PMID: 10849016). This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Trp265*) 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). For these reasons, this variant has been classified as Pathogenic.
Clinical Genetics and Genomics, Karolinska University Hospital RCV001269681 SCV001449848 pathogenic not provided 2016-05-19 criteria provided, single submitter clinical testing

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