Submissions for variant NM_000179.3(MSH6):c.2210C>T (p.Ala737Val)

gnomAD frequency: 0.00001  dbSNP: rs869312798

Total submissions: 5

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
University of Washington Department of Laboratory Medicine, University of Washington	RCV000210157	SCV000266205	uncertain significance	Lynch syndrome	2015-11-20	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV000215593	SCV000275333	uncertain significance	Hereditary cancer-predisposing syndrome	2023-10-02	criteria provided, single submitter	clinical testing	The p.A737V variant (also known as c.2210C>T), located in coding exon 4 of the MSH6 gene, results from a C to T substitution at nucleotide position 2210. The alanine at codon 737 is replaced by valine, an amino acid with similar properties. This variant was identified in an individual whose colorectal tumor demonstrated normal mismatch repair protein expression by immunohistochemistry (IHC) (Shirts BH et al. Genet Med, 2016 Oct;18:974-81). This amino acid position is not well conserved in available vertebrate species. In addition, the in silico prediction for this alteration is inconclusive. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
Color Diagnostics, LLC DBA Color Health	RCV000215593	SCV000908395	uncertain significance	Hereditary cancer-predisposing syndrome	2018-10-19	criteria provided, single submitter	clinical testing
Invitae	RCV001044010	SCV001207782	likely benign	Hereditary nonpolyposis colorectal neoplasms	2023-08-30	criteria provided, single submitter	clinical testing
All of Us Research Program, National Institutes of Health	RCV000210157	SCV004836251	uncertain significance	Lynch syndrome	2023-02-22	criteria provided, single submitter	clinical testing