ClinVar Miner

Submissions for variant NM_000251.3(MSH2):c.1022T>C (p.Leu341Pro)

dbSNP: rs63751147
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
International Society for Gastrointestinal Hereditary Tumours (InSiGHT) 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.

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