Submissions for variant NM_000251.3(MSH2):c.2123T>C (p.Ile708Thr)

gnomAD frequency: 0.00001  dbSNP: rs63750108

Total submissions: 4

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Ambry Genetics	RCV000563438	SCV000662282	uncertain significance	Hereditary cancer-predisposing syndrome	2021-03-26	criteria provided, single submitter	clinical testing	The p.I708T variant (also known as c.2123T>C), located in coding exon 13 of the MSH2 gene, results from a T to C substitution at nucleotide position 2123. The isoleucine at codon 708 is replaced by threonine, an amino acid with similar properties. This amino acid position is well conserved in available vertebrate species. In addition, this alteration is predicted to be deleterious by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
Invitae	RCV000629938	SCV000750894	likely benign	Hereditary nonpolyposis colorectal neoplasms	2023-08-30	criteria provided, single submitter	clinical testing
Color Diagnostics, LLC DBA Color Health	RCV000563438	SCV000906773	uncertain significance	Hereditary cancer-predisposing syndrome	2019-06-12	criteria provided, single submitter	clinical testing
All of Us Research Program, National Institutes of Health	RCV004000854	SCV004833532	uncertain significance	Lynch syndrome	2023-05-31	criteria provided, single submitter	clinical testing