ClinVar Miner

Submissions for variant NM_000251.3(MSH2):c.685A>T (p.Lys229Ter)

dbSNP: rs587779173
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
International Society for Gastrointestinal Hereditary Tumours (InSiGHT) RCV000076680 SCV000107715 pathogenic Lynch syndrome 2013-09-05 reviewed by expert panel research Coding sequence variation resulting in a stop codon
Quest Diagnostics Nichols Institute San Juan Capistrano RCV004998196 SCV005623680 pathogenic not provided 2024-02-28 criteria provided, single submitter clinical testing The MSH2 c.685A>T (p.Lys229*) variant causes the premature termination of MSH2 protein synthesis. This variant has been reported in the published literature in an individual with breast cancer (PMID: 20215533 (2010)). This variant has not been reported in large, multi-ethnic general populations (Genome Aggregation Database, http://gnomad.broadinstitute.org). Based on the available information, this variant is classified as pathogenic.

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