ClinVar Miner

Submissions for variant NM_000251.2(MSH2):c.2634+1G>T (rs267608019)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
International Society for Gastrointestinal Hereditary Tumours (InSiGHT) RCV000076519 SCV000107549 likely pathogenic Lynch syndrome 2019-06-21 reviewed by expert panel curation Interrupts canonical donor splice site
University of Washington Department of Laboratory Medicine, University of Washington RCV000076519 SCV000887429 pathogenic Lynch syndrome 2018-05-01 criteria provided, single submitter clinical testing MSH2 NM_000251.2:c.2634+1G>T has a 99.96% probability of pathogenicity based on combining prior probability from public data with a likelihood ratio of 26.5 to 1, generated from evidence of seeing this as a somatic mutation in a tumor with loss of heterozygosity at the MSH2 locus. See Shirts et al 2018, PMID 29887214.
Ambry Genetics RCV001016179 SCV001177101 pathogenic Hereditary cancer-predisposing syndrome 2019-07-24 criteria provided, single submitter clinical testing Detected in individual satisfying established diagnostic critera for classic disease without a clear mutation;Good segregation with disease (lod 1.5-3 = 5-9 meioses);Other strong data supporting pathogenic classification
Constitutional Genetics Lab,Leon Berard Cancer Center RCV001250026 SCV001423951 pathogenic Lynch-like syndrome 2019-07-01 no assertion criteria provided clinical testing

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