Submissions for variant NM_000179.3(MSH6):c.1275C>A (p.Ile425=)

gnomAD frequency: 0.00001  dbSNP: rs786203122

Total submissions: 8

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Ambry Genetics	RCV000166291	SCV000217074	likely benign	Hereditary cancer-predisposing syndrome	2014-10-24	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.
GeneDx	RCV001704216	SCV000515465	likely benign	not provided	2021-09-16	criteria provided, single submitter	clinical testing	This variant is associated with the following publications: (PMID: 22495361)
Labcorp Genetics (formerly Invitae), Labcorp	RCV000528272	SCV000624633	likely benign	Hereditary nonpolyposis colorectal neoplasms	2024-06-04	criteria provided, single submitter	clinical testing
Color Diagnostics, LLC DBA Color Health	RCV000166291	SCV000690192	likely benign	Hereditary cancer-predisposing syndrome	2016-01-11	criteria provided, single submitter	clinical testing
Center for Genomic Medicine, Rigshospitalet, Copenhagen University Hospital	RCV002267916	SCV002552292	likely benign	not specified	2025-03-04	criteria provided, single submitter	clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp	RCV002267916	SCV002556095	likely benign	not specified	2022-06-23	criteria provided, single submitter	clinical testing
All of Us Research Program, National Institutes of Health	RCV003995497	SCV004841217	likely benign	Lynch syndrome	2024-01-11	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV004739533	SCV005354480	likely benign	MSH6-related disorder	2024-08-22	no assertion criteria provided	clinical testing	This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).