Submissions for variant NM_000179.3(MSH6):c.2187C>A (p.Ala729=)

dbSNP: rs375610656

Total submissions: 10

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV000202207	SCV000211355	benign	not specified	2014-10-02	criteria provided, single submitter	clinical testing	This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Labcorp Genetics (formerly Invitae), Labcorp	RCV001079644	SCV000253093	likely benign	Hereditary nonpolyposis colorectal neoplasms	2025-01-22	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV000563596	SCV000669978	likely benign	Hereditary cancer-predisposing syndrome	2016-04-27	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	RCV000563596	SCV000685263	likely benign	Hereditary cancer-predisposing syndrome	2015-09-30	criteria provided, single submitter	clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp	RCV000202207	SCV000695802	likely benign	not specified	2020-08-06	criteria provided, single submitter	clinical testing
Sema4, Sema4	RCV000563596	SCV002535709	likely benign	Hereditary cancer-predisposing syndrome	2021-05-10	criteria provided, single submitter	curation
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario	RCV003492656	SCV004239307	likely benign	Breast and/or ovarian cancer	2022-08-31	criteria provided, single submitter	clinical testing
All of Us Research Program, National Institutes of Health	RCV003998512	SCV004836163	likely benign	Lynch syndrome	2024-01-11	criteria provided, single submitter	clinical testing
Mayo Clinic Laboratories, Mayo Clinic	RCV000202207	SCV000257220	likely benign	not specified		no assertion criteria provided	research
PreventionGenetics, part of Exact Sciences	RCV004535043	SCV004716704	likely benign	MSH6-related disorder	2023-07-17	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).