Submissions for variant NM_000179.3(MSH6):c.1022C>G (p.Ser341Cys)

dbSNP: rs766202031

Total submissions: 4

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Ambry Genetics	RCV000568421	SCV000670119	uncertain significance	Hereditary cancer-predisposing syndrome	2017-09-11	criteria provided, single submitter	clinical testing	The p.S341C variant (also known as c.1022C>G), located in coding exon 4 of the MSH6 gene, results from a C to G substitution at nucleotide position 1022. The serine at codon 341 is replaced by cysteine, an amino acid with dissimilar properties. This amino acid position is highly conserved through mammals but not in all available vertebrate species. In addition, the in silico prediction for this alteration is inconclusive. In addition, the CoDP in silico tool predicts this alteration to have a minor impact on molecular function, with a score of 0.000 (Terui H et al. J. Biomed. Sci. 2013 Apr;20:25). Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
Color Diagnostics, LLC DBA Color Health	RCV000568421	SCV001344145	uncertain significance	Hereditary cancer-predisposing syndrome	2018-12-11	criteria provided, single submitter	clinical testing
Invitae	RCV002528146	SCV003344748	likely benign	Hereditary nonpolyposis colorectal neoplasms	2024-01-11	criteria provided, single submitter	clinical testing
All of Us Research Program, National Institutes of Health	RCV004001068	SCV004837547	uncertain significance	Lynch syndrome	2023-12-01	criteria provided, single submitter	clinical testing