ClinVar Miner

Submissions for variant NM_000251.2(MSH2):c.2087C>T (p.Pro696Leu) (rs267607994)

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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) RCV000076383 SCV000107410 pathogenic Lynch syndrome 2019-06-21 reviewed by expert panel curation Multifactorial likelihood analysis posterior probability >0.99
Invitae RCV001034643 SCV000260475 pathogenic Hereditary nonpolyposis colorectal neoplasms 2019-01-23 criteria provided, single submitter clinical testing This sequence change replaces proline with leucine at codon 696 of the MSH2 protein (p.Pro696Leu). The proline residue is highly conserved and there is a moderate physicochemical difference between proline and leucine. This variant is not present in population databases (ExAC no frequency). This variant has been observed in several families affected with Lynch syndrome (PMID: 26053027, 19419416, 23729658, 12624141). It has also been observed to segregate with Lynch syndrome-related cancers (PMID: 23729658, 12624141). ClinVar contains an entry for this variant (Variation ID: 90881). This variant has been reported to affect MSH2 protein function (PMID: 27629256, 29731845, 26951660). For these reasons, this variant has been classified as Pathogenic.
Ambry Genetics RCV000492029 SCV000580387 likely pathogenic Hereditary cancer-predisposing syndrome 2018-09-06 criteria provided, single submitter clinical testing In silico models in agreement (deleterious) and/or completely conserved position in appropriate species;Detected in individual satisfying established diagnostic critera for classic disease without a clear mutation;Deficient protein function in appropriate functional assay(s);Rarity in general population databases (dbsnp, esp, 1000 genomes)
Department of Pathology and Laboratory Medicine,Sinai Health System RCV000501546 SCV000592534 uncertain significance not specified 2014-06-12 criteria provided, single submitter clinical testing

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