ClinVar Miner

Submissions for variant NM_000244.3(MEN1):c.928-2A>G (rs1114167498)

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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 RCV000492022 SCV000579683 likely pathogenic Hereditary cancer-predisposing syndrome 2014-06-04 criteria provided, single submitter clinical testing Alterations at the canonical donor/acceptor sites (+/- 1, 2) without other strong (b-level) evidence supporting pathogenicity
Invitae RCV000632096 SCV000753200 pathogenic Multiple endocrine neoplasia, type 1 2018-03-05 criteria provided, single submitter clinical testing This sequence change affects an acceptor splice site in intron 6 of the MEN1 gene. It is expected to disrupt RNA splicing and likely results in an absent or disrupted protein product. This variant is not present in population databases (ExAC no frequency). This variant has been reported to be de novo in an individual affected with multiple endocrine neoplasia type 1 (Invitae). ClinVar contains an entry for this variant (Variation ID: 428037). Donor and acceptor splice site variants typically lead to a loss of protein function (PMID: 16199547), and 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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