Submissions for variant NM_000179.3(MSH6):c.2161A>C (p.Arg721=)

dbSNP: rs537604099

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Ambry Genetics	RCV000565256	SCV000669970	likely benign	Hereditary cancer-predisposing syndrome	2016-04-04	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.
Color Diagnostics, LLC DBA Color Health	RCV000565256	SCV000690246	likely benign	Hereditary cancer-predisposing syndrome	2015-05-18	criteria provided, single submitter	clinical testing
Invitae	RCV000630416	SCV000751372	likely benign	Hereditary nonpolyposis colorectal neoplasms	2023-11-20	criteria provided, single submitter	clinical testing
University of Washington Department of Laboratory Medicine, University of Washington	RCV000758624	SCV000887381	uncertain significance	Lynch syndrome	2018-05-01	criteria provided, single submitter	clinical testing	MSH6 NM_000179.2:c.2161A>C has a 7.6% probability of pathogenicity based on combining prior probability from public data with a likelihood ratio of 1.56 to 1, generated from evidence of seeing this as a somatic mutation in a tumor without loss of heterozygosity at the MSH6 locus. See Shirts et al 2018, PMID 29887214.
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV001001258	SCV001158428	likely benign	not specified	2019-05-24	criteria provided, single submitter	clinical testing
All of Us Research Program, National Institutes of Health	RCV000758624	SCV004836074	likely benign	Lynch syndrome	2023-08-15	criteria provided, single submitter	clinical testing