Submissions for variant NM_000251.3(MSH2):c.132G>C (p.Thr44=)

dbSNP: rs766856128

Total submissions: 5

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Ambry Genetics	RCV000213624	SCV000273432	likely benign	Hereditary cancer-predisposing syndrome	2015-01-16	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.
Labcorp Genetics (formerly Invitae), Labcorp	RCV001441221	SCV001644145	likely benign	Hereditary nonpolyposis colorectal neoplasms	2023-09-14	criteria provided, single submitter	clinical testing
Sema4, Sema4	RCV000213624	SCV002528836	likely benign	Hereditary cancer-predisposing syndrome	2021-08-18	criteria provided, single submitter	curation
All of Us Research Program, National Institutes of Health	RCV004806218	SCV005427927	likely benign	Lynch syndrome	2024-07-29	criteria provided, single submitter	clinical testing
Myriad Genetics, Inc.	RCV005246813	SCV005899149	benign	Lynch syndrome 1	2024-12-03	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.