ClinVar Miner

Submissions for variant NM_000179.3(MSH6):c.3328C>T (p.Pro1110Ser)

dbSNP: rs374070511
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
Ambry Genetics RCV000166804 SCV000217618 uncertain significance Hereditary cancer-predisposing syndrome 2021-12-14 criteria provided, single submitter clinical testing The p.P1110S variant (also known as c.3328C>T), located in coding exon 5 of the MSH6 gene, results from a C to T substitution at nucleotide position 3328. The proline at codon 1110 is replaced by serine, an amino acid with similar properties. This amino acid position is highly conserved in available vertebrate species. In addition, this alteration is predicted to be deleterious by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
Invitae RCV000701255 SCV000830046 likely benign Hereditary nonpolyposis colorectal neoplasms 2023-06-27 criteria provided, single submitter clinical testing
Color Diagnostics, LLC DBA Color Health RCV000166804 SCV001353075 uncertain significance Hereditary cancer-predisposing syndrome 2019-08-23 criteria provided, single submitter clinical testing This missense variant replaces proline with serine at codon 1110 of the MSH6 protein. Computational prediction tools and conservation analyses suggest that this variant may have deleterious impact on protein structure and function. Splice site prediction tools suggest that this variant may not impact RNA splicing. To our knowledge, functional studies have not been performed for this variant. This variant has not been reported in individuals affected with hereditary cancer in the literature. This variant has been identified in 2/251314 chromosomes in the general population by the Genome Aggregation Database (gnomAD). The available evidence is insufficient to determine the role of this variant in disease conclusively. Therefore, this variant is classified as a Variant of Uncertain Significance.
All of Us Research Program, National Institutes of Health RCV003995533 SCV004835051 uncertain significance Lynch syndrome 2023-05-04 criteria provided, single submitter clinical testing This missense variant replaces proline with serine at codon 1110 of the MSH6 protein. Computational prediction tools and conservation analyses suggest that this variant may have deleterious impact on protein structure and function. Splice site prediction tools suggest that this variant may not impact RNA splicing. To our knowledge, functional studies have not been performed for this variant. This variant has not been reported in individuals affected with hereditary cancer in the literature. This variant has been identified in 2/251314 chromosomes in the general population by the Genome Aggregation Database (gnomAD). The available evidence is insufficient to determine the role of this variant in disease conclusively. Therefore, this variant is classified as a Variant of Uncertain Significance.

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.