ClinVar Miner

Submissions for variant NM_000244.3(MEN1):c.669+1G>A (rs794728622)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000032982 SCV001207420 pathogenic Multiple endocrine neoplasia, type 1 2019-01-18 criteria provided, single submitter clinical testing This sequence change affects a donor 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 been observed in several individuals and families affected with clinical features of multiple endocrine neoplasia type 1 (MEN1) syndrome (PMID: 22275377, 25733923, 28870973). This variant is also known as IVS3+1G>A in the literature. ClinVar contains an entry for this variant (Variation ID: 39763). Experimental studies have shown that this variant disrupts mRNA splicing (PMID: 22275377). 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.
OMIM RCV000032982 SCV000056761 pathogenic Multiple endocrine neoplasia, type 1 2012-03-09 no assertion criteria provided literature only

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