Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
International Society for Gastrointestinal Hereditary Tumours |
RCV000076002 | SCV000107012 | likely pathogenic | Lynch syndrome | 2019-06-21 | reviewed by expert panel | curation | Multifactorial likelihood analysis posterior probability 0.95-0.99 |
Invitae | RCV001213427 | SCV001385056 | pathogenic | Hereditary nonpolyposis colorectal neoplasms | 2021-03-01 | criteria provided, single submitter | clinical testing | For these reasons, this variant has been classified as Pathogenic. Experimental studies have shown that this variant affects MSH2 protein function (PMID: 26951660, 31433521, 30998989). This variant has been observed in individual(s) with clinical features of Lynch syndrome (PMID: 12624141, 31433521). It has also been observed to segregate with disease in related individuals. ClinVar contains an entry for this variant (Variation ID: 90507). This variant is not present in population databases (ExAC no frequency). This sequence change replaces leucine with proline at codon 341 of the MSH2 protein (p.Leu341Pro). The leucine residue is highly conserved and there is a moderate physicochemical difference between leucine and proline. |