ClinVar Miner

Submissions for variant NC_000011.9:g.(?_64572175)_(64575826_?)del

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV004580142 SCV005062651 pathogenic Multiple endocrine neoplasia, type 1 2020-02-27 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. This variant disrupts the C-terminus of the MEN1 protein. Another variant that disrupts this region (p.Gln554*) has been determined to be pathogenic (PMID: 11578300, 17853334, 15331604, 16449969). This suggests that variants that disrupt this region of the protein are likely to be causative of disease. This variant has not been reported in the literature in individuals with MEN1-related conditions. This variant results in the deletion of exons 3-9 and part of exon 10 (c.446-255_1464del) of the MEN1 gene. While this is not anticipated to result in nonsense mediated decay, it likely alters RNA splicing and results in a disrupted protein product.

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