ClinVar Miner

Submissions for variant NM_000244.3(MEN1):c.777_783dup (p.Leu262fs) (rs1555165488)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Center for Human Genetics,University of Leuven RCV000664332 SCV000606806 likely pathogenic Multiple endocrine neoplasia, type 1 2017-10-06 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories RCV001289800 SCV001477790 pathogenic none provided 2020-04-01 criteria provided, single submitter clinical testing The MEN1 c.762_768dupGGAGCTT; p.Leu257fs variant (rs1555165488), also published as 879insGGAGCTT, is reported in the literature in several families with symptoms or a diagnosis of multiple endocrine neoplasia type 1 (Poncin 1999, Vinck 2018). This variant is absent from general population databases (Exome Variant Server, Genome Aggregation Database), indicating it is not a common polymorphism. This variant causes a frameshift by inserting seven nucleotides, so it is predicted to result in a truncated protein or mRNA subject to nonsense-mediated decay. Based on available information, this variant is considered to be pathogenic. References: Poncin J et al. Mutation analysis of the MEN1 gene in Belgian patients with multiple endocrine neoplasia type 1 and related diseases. Hum Mutat. 1999;13(1):54-60. Vinck WJ et al. Pancreatic hemi-agenesis in MEN1: A clinical report. Eur J Med Genet. 2018 Apr;61(4):181-184.

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