ClinVar Miner

Submissions for variant NM_000244.3(MEN1):c.839+1G>T (rs1060499976)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000466988 SCV000541193 pathogenic Multiple endocrine neoplasia, type 1 2016-10-15 criteria provided, single submitter clinical testing This sequence change affects a donor splice site in intron 5 of the MEN1 gene. It is expected to disrupt RNA splicing and likely results in an absent or disrupted protein product. While this particular variant has not been reported in the literature, loss-of-function variants in MEN1 are known to be pathogenic (PMID: 17853334, 12112656). A different variant affecting this nucleotide has been reported in patients affected with multiple endocrine neoplasia type 1, hyperparathyroidism, pituitary tumor, pancreatic tumor, fibroma, and/or adrenal tumor (PMID: 15870131, 12652570), indicating that this nucleotide may be crucial for normal RNA splicing. For these reasons, this variant has been classified as Pathogenic.

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