Submissions for variant NM_000251.3(MSH2):c.1159C>T (p.Leu387Phe)

gnomAD frequency: 0.00008  dbSNP: rs751249745

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV000478467	SCV000566088	uncertain significance	not provided	2019-07-10	criteria provided, single submitter	clinical testing	In silico analysis, which includes protein predictors and evolutionary conservation, supports that this variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
Invitae	RCV000559869	SCV000625231	benign	Hereditary nonpolyposis colorectal neoplasms	2023-08-30	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV000567051	SCV000669727	benign	Hereditary cancer-predisposing syndrome	2022-04-11	criteria provided, single submitter	clinical testing	This alteration is classified as 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	RCV000567051	SCV000684910	likely benign	Hereditary cancer-predisposing syndrome	2020-12-08	criteria provided, single submitter	clinical testing
Baylor Genetics	RCV003463981	SCV004196859	uncertain significance	Lynch syndrome 1	2023-05-02	criteria provided, single submitter	clinical testing
All of Us Research Program, National Institutes of Health	RCV004002270	SCV004827209	likely benign	Lynch syndrome	2023-11-02	criteria provided, single submitter	clinical testing