Submissions for variant NM_000251.3(MSH2):c.1617T>C (p.Phe539=)

gnomAD frequency: 0.00003  dbSNP: rs730881759

Total submissions: 7

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV001703535	SCV000515567	likely benign	not provided	2020-10-18	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV000569919	SCV000669710	likely benign	Hereditary cancer-predisposing syndrome	2015-02-10	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	RCV000569919	SCV000684955	likely benign	Hereditary cancer-predisposing syndrome	2016-11-03	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV000877461	SCV001020200	likely benign	Hereditary nonpolyposis colorectal neoplasms	2025-01-28	criteria provided, single submitter	clinical testing
All of Us Research Program, National Institutes of Health	RCV003996012	SCV004833959	likely benign	Lynch syndrome	2023-06-26	criteria provided, single submitter	clinical testing
Myriad Genetics, Inc.	RCV005246942	SCV005898505	benign	Lynch syndrome 1	2024-12-10	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.
Department of Pathology and Laboratory Medicine, Sinai Health System	RCV005365274	SCV005921065	likely benign	Lynch syndrome 1; Muir-Torré syndrome; Mismatch repair cancer syndrome 2	2024-01-19	criteria provided, single submitter	clinical testing