ClinVar Miner

Submissions for variant NM_000244.3(MEN1):c.951C>G (p.Tyr317Ter) (rs386134260)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000082340 SCV000114303 pathogenic not provided 2013-11-06 criteria provided, single submitter clinical testing
Invitae RCV000030210 SCV001388133 pathogenic Multiple endocrine neoplasia, type 1 2019-06-05 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Tyr312*) 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 several individuals with clinical features of MEN1 syndrome (PMID: 9832038, 9215689, 15292304). ClinVar contains an entry for this variant (Variation ID: 36537). Loss-of-function variants in MEN1 are known to be pathogenic (PMID: 12112656, 17853334). For these reasons, this variant has been classified as Pathogenic.
Integrated Genetics/Laboratory Corporation of America RCV000030210 SCV000052877 not provided Multiple endocrine neoplasia, type 1 2015-10-02 no assertion provided clinical testing

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