ClinVar Miner

Submissions for variant NM_000251.3(MSH2):c.999dup (p.Lys334Ter)

dbSNP: rs2104247370
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Myriad Genetics, Inc. RCV003450005 SCV004186939 pathogenic Lynch syndrome 1 2023-07-28 criteria provided, single submitter clinical testing This variant is considered pathogenic. This variant creates a termination codon and is predicted to result in premature protein truncation.
Department of Pathology and Laboratory Medicine, Sinai Health System RCV001358509 SCV001554262 pathogenic Carcinoma of colon no assertion criteria provided clinical testing The MSH2 p.Lys334* variant was not identified in the literature nor was it identified in the dbSNP, ClinVar, COGR, Cosmic, MutDB, Insight Colon Cancer Gene Variant, Zhejiang University, Mismatch Repair Genes Variant, and Insight Hereditary Tumor database. The variant was not identified in the following control databases: the 1000 Genomes Project, the NHLBI GO Exome Sequencing Project, and the Exome Aggregation Consortium (August 8th 2016), or the Genome Aggregation Database (Feb 27, 2017). The c.999dup variant leads to a premature stop codon at position 334 which is predicted to lead to a truncated or absent protein and loss of function. Loss of function variants of the MSH2 gene are an established mechanism of disease in Lynch syndrome and is the type of variant expected to cause the disorder. In summary, based on the above information this variant meets our laboratory’s criteria to be classified as pathogenic.

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