ClinVar Miner

Submissions for variant NM_000244.3(MEN1):c.563G>A (p.Trp188Ter) (rs794728650)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Center for Human Genetics, Inc RCV000659844 SCV000781720 pathogenic Multiple endocrine neoplasia, type 1 2016-11-01 criteria provided, single submitter clinical testing
Invitae RCV000659844 SCV000816977 pathogenic Multiple endocrine neoplasia, type 1 2018-08-27 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Trp183*) 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 been observed in an individual affected with multiple endocrine neoplasia type 1 (PMID: 9671267). 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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