ClinVar Miner

Submissions for variant NM_000251.2(MSH2):c.187del (p.Gly62_Val63insTer) (rs63750160)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
International Society for Gastrointestinal Hereditary Tumours (InSiGHT) RCV000076310 SCV000107331 pathogenic Lynch syndrome 2013-09-05 reviewed by expert panel research Coding sequence variation introducing premature termination codon
GeneDx RCV000202123 SCV000293285 pathogenic not provided 2018-09-18 criteria provided, single submitter clinical testing This deletion of one nucleotide is denoted MSH2 c.187delG at the cDNA level and p.Val63Ter (V63X) at the protein level. The normal sequence, with the base that is deleted in brackets, is AGGGG[delG]TGAT. The deletion creates a nonsense variant, which changes a Valine to a premature stop codon. This variant is predicted to cause loss of normal protein function through either protein truncation or nonsense-mediated mRNA decay. The International Society for Gastrointestinal Hereditary Tumours Incorporated (InSiGHT) classifies this variant as pathogenic (Thompson 2014). MSH2 c.187delG has been identified in individuals with a personal and family history suggestive of Lynch syndrome, and tumors from several of these individuals exhibited microsatellite instability and/or absence of MSH2 expression (Beherns 2003, Mangold 2005, Lotsari 2012). We consider this variant to be pathogenic.
Ambry Genetics RCV000491017 SCV000580445 pathogenic Hereditary cancer-predisposing syndrome 2018-04-02 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Alterations resulting in premature truncation (e.g.reading frame shift, nonsense)
A.C.Camargo Cancer Center / LGBM, A.C.Camargo Cancer Center RCV000076310 SCV000914296 pathogenic Lynch syndrome 2019-01-30 criteria provided, single submitter research
Mayo Clinic Genetic Testing Laboratories,Mayo Clinic RCV000202123 SCV000257156 pathogenic not provided no assertion criteria provided research

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