Submissions for variant NM_000179.3(MSH6):c.141T>G (p.Asp47Glu)

dbSNP: rs1668124415

Total submissions: 2

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Labcorp Genetics (formerly Invitae), Labcorp	RCV001884521	SCV002160693	uncertain significance	Hereditary nonpolyposis colorectal neoplasms	2021-11-15	criteria provided, single submitter	clinical testing	In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is not expected to disrupt MSH6 protein function. This variant has not been reported in the literature in individuals affected with MSH6-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change replaces aspartic acid, which is acidic and polar, with glutamic acid, which is acidic and polar, at codon 47 of the MSH6 protein (p.Asp47Glu).
All of Us Research Program, National Institutes of Health	RCV004010790	SCV004838904	uncertain significance	Lynch syndrome	2024-01-11	criteria provided, single submitter	clinical testing