Submissions for variant NM_000251.3(MSH2):c.624A>C (p.Gly208=)

gnomAD frequency: 0.00001  dbSNP: rs786202651

Total submissions: 8

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Ambry Genetics	RCV000165563	SCV000216296	likely benign	Hereditary cancer-predisposing syndrome	2014-08-09	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	RCV000438502	SCV000535240	likely benign	not specified	2016-12-19	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	RCV000630339	SCV000751295	likely benign	Hereditary nonpolyposis colorectal neoplasms	2025-01-23	criteria provided, single submitter	clinical testing
Color Diagnostics, LLC DBA Color Health	RCV000165563	SCV002052718	likely benign	Hereditary cancer-predisposing syndrome	2021-06-08	criteria provided, single submitter	clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp	RCV000438502	SCV004020514	likely benign	not specified	2023-06-22	criteria provided, single submitter	clinical testing
All of Us Research Program, National Institutes of Health	RCV003995428	SCV004830850	likely benign	Lynch syndrome	2023-11-02	criteria provided, single submitter	clinical testing
Myriad Genetics, Inc.	RCV005246722	SCV005898796	benign	Lynch syndrome 1	2024-12-04	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.
PreventionGenetics, part of Exact Sciences	RCV004539553	SCV004770829	likely benign	MSH2-related disorder	2020-02-10	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).