ClinVar Miner

Submissions for variant NM_000244.3(MEN1):c.670-1G>A

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000819459 SCV000960119 pathogenic Multiple endocrine neoplasia, type 1 2018-10-21 criteria provided, single submitter clinical testing This sequence change affects an acceptor splice site in intron 3 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 not been reported in the literature in individuals with MEN1-related disease. A different variant resulting in disruption of this splice site has been observed in several individuals affected with multiple endocrine neoplasia type 1 (PMID: 22026581, 9709985). 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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