Submissions for variant NM_000251.3(MSH2):c.2387C>G (p.Thr796Ser)

dbSNP: rs863224641

Total submissions: 4

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Labcorp Genetics (formerly Invitae), Labcorp	RCV000799266	SCV000938920	likely benign	Hereditary nonpolyposis colorectal neoplasms	2023-09-15	criteria provided, single submitter	clinical testing
Color Diagnostics, LLC DBA Color Health	RCV001181432	SCV001346575	uncertain significance	Hereditary cancer-predisposing syndrome	2019-02-27	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV001181432	SCV002737302	uncertain significance	Hereditary cancer-predisposing syndrome	2022-12-29	criteria provided, single submitter	clinical testing	The p.T796S variant (also known as c.2387C>G), located in coding exon 14 of the MSH2 gene, results from a C to G substitution at nucleotide position 2387. The threonine at codon 796 is replaced by serine, an amino acid with similar properties. In a massively parallel cell-based functional assay testing susceptibility to a DNA damaging agent, 6-thioguanine (6-TG), this variant was reported to be functionally neutral (Jia X et al. Am J Hum Genet, 2021 Jan;108:163-175). This amino acid position is well conserved in available vertebrate species. In addition, this alteration is predicted to be tolerated by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
Center for Genomic Medicine, Rigshospitalet, Copenhagen University Hospital	RCV005231347	SCV005873043	likely benign	not specified	2025-03-04	criteria provided, single submitter	clinical testing	Classification criteria: BS3, BP4