Submissions for variant NM_000179.3(MSH6):c.2413A>G (p.Ile805Val)

dbSNP: rs928923556

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Ambry Genetics	RCV000564287	SCV000662494	uncertain significance	Hereditary cancer-predisposing syndrome	2022-02-10	criteria provided, single submitter	clinical testing	The p.I805V variant (also known as c.2413A>G), located in coding exon 4 of the MSH6 gene, results from an A to G substitution at nucleotide position 2413. The isoleucine at codon 805 is replaced by valine, an amino acid with highly similar properties. This amino acid position is not 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.
Color Diagnostics, LLC DBA Color Health	RCV000564287	SCV000911133	likely benign	Hereditary cancer-predisposing syndrome	2017-04-13	criteria provided, single submitter	clinical testing
Invitae	RCV000815080	SCV000955523	likely benign	Hereditary nonpolyposis colorectal neoplasms	2023-12-27	criteria provided, single submitter	clinical testing
Quest Diagnostics Nichols Institute San Juan Capistrano	RCV000985832	SCV001134411	uncertain significance	not provided	2019-04-11	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV000985832	SCV002544036	uncertain significance	not provided	2022-05-01	criteria provided, single submitter	clinical testing	MSH6: PP2, BP4
All of Us Research Program, National Institutes of Health	RCV004000878	SCV004834365	likely benign	Lynch syndrome	2023-09-17	criteria provided, single submitter	clinical testing