ClinVar Miner

Submissions for variant NM_000244.3(MEN1):c.938C>A (p.Ser313Ter) (rs1565644366)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000757458 SCV000885691 pathogenic not provided 2018-04-25 criteria provided, single submitter clinical testing The MEN1 c.923C>A; p.Ser308Ter variant has been described in individuals affected with multiple endocrine neoplasia type 1 (Agarwal 1997, Liu 2013). It is absent from general population databases (1000 Genomes Project, Exome Variant Server, and Genome Aggregation Database), indicating it is not a common polymorphism. This variant induces an early termination codon and is predicted to result in a truncated protein or mRNA subject to nonsense-mediated decay. Based on available information, this variant is considered pathogenic. References: Agarwal S et al. Germline mutations of the MEN1 gene in familial multiple endocrine neoplasia type 1 and related states. Hum Mol Genet. 1997 Jul;6(7):1169-75. Liu W et al. A novel germline mutation of the MEN1 gene caused multiple endocrine neoplasia type 1 in a Chinese young man and 1 year follow-up. Eur Rev Med Pharmacol Sci. 2013 Nov;17(22):3111-6.

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