ClinVar Miner

Submissions for variant NM_000244.3(MEN1):c.1192C>T (p.Gln398Ter) (rs1060499984)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000491380 SCV000579670 pathogenic Hereditary cancer-predisposing syndrome 2013-12-20 criteria provided, single submitter clinical testing
Invitae RCV001203901 SCV001375083 pathogenic Multiple endocrine neoplasia, type 1 2019-06-24 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Gln393*) 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 individuals with multiple endocrine neoplasia type 1 (PMID: 10090472, 22470073). This variant is also known as c.1192C>T, p.Gln398Term in the literature. ClinVar contains an entry for this variant (Variation ID: 428027). 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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