Submissions for variant NM_000251.3(MSH2):c.2355T>C (p.His785=)

dbSNP: rs1114167840

Total submissions: 4

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Ambry Genetics	RCV000491418	SCV000580526	likely benign	Hereditary cancer-predisposing syndrome	2022-11-19	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.
University of Washington Department of Laboratory Medicine, University of Washington	RCV000758662	SCV000887433	benign	Lynch syndrome	2018-05-01	criteria provided, single submitter	clinical testing	MSH2 NM_000251.2:c.2355T>C has a 0.9% probability of pathogenicity based on combining prior probability from public data with a likelihood ratio of 0.16 to 1, generated from evidence of seeing this as a somatic mutation in a tumor with loss of heterozygosity at the MSH2 locus. See Shirts et al 2018, PMID 29887214.
Labcorp Genetics (formerly Invitae), Labcorp	RCV001431996	SCV001634760	likely benign	Hereditary nonpolyposis colorectal neoplasms	2023-07-21	criteria provided, single submitter	clinical testing
Myriad Genetics, Inc.	RCV005248068	SCV005895845	benign	Lynch syndrome 1	2024-12-12	criteria provided, single submitter	clinical testing	This variant is considered benign. This variant is a silent/synonymous amino acid change and it is not expected to impact splicing.