ClinVar Miner

Submissions for variant NM_000251.3(MSH2):c.942+1del

dbSNP: rs1194793421
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Department of Molecular Diagnostics, Institute of Oncology Ljubljana RCV000755027 SCV000882847 likely pathogenic Lynch syndrome 1 2018-10-24 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV004017724 SCV004848378 likely pathogenic Lynch syndrome 2020-05-13 criteria provided, single submitter clinical testing The c.942+1delG variant in MSH2 has not been reported in individuals affected with Lynch syndrome and was absent from large population studies. This variant occurs within the canonical splice site (+/- 1,2) and is predicted to cause altered splicing leading to an abnormal or absent protein. Loss of function of the MSH2 gene is an established disease mechanism in autosomal dominant Lynch syndrome. Other variants affecting the same splice site have been reported in ClinVar (Pathogenic or Likely Pathogenic) and c.942+1G>T has been classified as Likely pathogenic by our laboratory. In summary, although additional studies are required to establish its clinical significance, the c.942+1delG variant meets criteria to be classified as likely pathogenic for autosomal dominant Lynch syndrome. ACMG/AMP criteria applied: PVS1_Strong, PM2.

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