Submissions for variant NM_000251.3(MSH2):c.432C>T (p.Ser144=)

dbSNP: rs1558459072

Total submissions: 3

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
University of Washington Department of Laboratory Medicine, University of Washington	RCV000758660	SCV000887431	uncertain significance	Lynch syndrome	2018-05-01	criteria provided, single submitter	clinical testing	MSH2 NM_000251.2:c.432C>T has a 16.7% probability of pathogenicity based on combining prior probability from public data with a likelihood ratio of 0.201 to 1, generated from evidence of seeing this as a somatic mutation in a tumor without loss of heterozygosity at the MSH2 locus. See Shirts et al 2018, PMID 29887214.
Invitae	RCV001404011	SCV001605900	likely benign	Hereditary nonpolyposis colorectal neoplasms	2020-07-27	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002332539	SCV002632137	likely benign	Hereditary cancer-predisposing syndrome	2016-10-12	criteria provided, single submitter	clinical testing	This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.