ClinVar Miner

Submissions for variant NM_000251.2(MSH2):c.560T>C (p.Leu187Pro) (rs63751444)

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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) RCV000076638 SCV000107673 pathogenic Lynch syndrome 2013-09-05 reviewed by expert panel research Multifactorial likelihood analysis posterior probability >0.99
Department of Pathology and Laboratory Medicine,Sinai Health System RCV000076638 SCV000592468 pathogenic Lynch syndrome 2012-11-12 criteria provided, single submitter clinical testing
Color RCV000581973 SCV000690118 likely pathogenic Hereditary cancer-predisposing syndrome 2019-04-03 criteria provided, single submitter clinical testing
Ambry Genetics RCV000581973 SCV001186319 pathogenic Hereditary cancer-predisposing syndrome 2018-12-26 criteria provided, single submitter clinical testing Deficient protein function in appropriate functional assay(s);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);In silico models in agreement (deleterious) and/or completely conserved position in appropriate species;Structural Evidence
Invitae RCV001240116 SCV001413039 pathogenic Hereditary nonpolyposis colorectal neoplasms 2019-10-21 criteria provided, single submitter clinical testing This sequence change replaces leucine with proline at codon 187 of the MSH2 protein (p.Leu187Pro). The leucine residue is highly conserved and there is a moderate physicochemical difference between leucine and proline. This variant is not present in population databases (ExAC no frequency). This variant has been observed in many individuals affected with Lynch syndrome (LS) (PMID: 16327991, 18951462, 17101317, 15849733) and has also been reported to segregate with LS-associated cancer in the affected families (PMID: 16327991). ClinVar contains an entry for this variant (Variation ID: 91134). This variant has been reported to affect MSH2 protein function (PMID: 16327991, 18951462, 17101317, 28422960). For these reasons, this variant has been classified as Pathogenic.

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