ClinVar Miner

Submissions for variant NM_000179.3(MSH6):c.3080T>G (p.Val1027Gly)

dbSNP: rs1553414471
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 4
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000554295 SCV000624815 uncertain significance Hereditary nonpolyposis colorectal neoplasms 2024-03-25 criteria provided, single submitter clinical testing This sequence change replaces valine, which is neutral and non-polar, with glycine, which is neutral and non-polar, at codon 1027 of the MSH6 protein (p.Val1027Gly). This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with MSH6-related conditions. ClinVar contains an entry for this variant (Variation ID: 455230). 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 with a negative predictive value of 95%. 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.
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000985839 SCV001134421 uncertain significance not provided 2019-03-11 criteria provided, single submitter clinical testing
Ambry Genetics RCV002319523 SCV002606827 uncertain significance Hereditary cancer-predisposing syndrome 2024-07-11 criteria provided, single submitter clinical testing The p.V1027G variant (also known as c.3080T>G), located in coding exon 4 of the MSH6 gene, results from a T to G substitution at nucleotide position 3080. The valine at codon 1027 is replaced by glycine, an amino acid with dissimilar properties. This amino acid position is poorly conserved in available vertebrate species. In addition, the in silico prediction for this alteration is inconclusive. Based on the available evidence, the clinical significance of this variant remains unclear.
Baylor Genetics RCV004568707 SCV005054864 uncertain significance Endometrial carcinoma 2024-03-08 criteria provided, single submitter clinical testing

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.