ClinVar Miner

Submissions for variant NM_000244.3(MEN1):c.1366-1G>C (rs794728629)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000540660 SCV000628038 likely pathogenic Multiple endocrine neoplasia, type 1 2017-04-05 criteria provided, single submitter clinical testing This sequence change affects an acceptor splice site in intron 9 of the MEN1 gene. It is expected to disrupt RNA splicing and likely results in an absent or disrupted protein product. This variant has been reported in a review of germline variants identified in the MEN1 gene (PMID: 26767918). In summary, donor and acceptor splice site variants are typically loss-of-function (PMID: 16199547), and loss-of-function variants in MEN1 are known to be pathogenic (PMID: 17853334, 12112656). However, without additional functional and/or genetic data, this variant has been classified as Likely Pathogenic.

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