ClinVar Miner

Submissions for variant NM_000179.3(MSH6):c.1045C>G (p.Gln349Glu)

dbSNP: rs863224473
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
Color Diagnostics, LLC DBA Color Health RCV000580956 SCV000685158 uncertain significance Hereditary cancer-predisposing syndrome 2022-06-29 criteria provided, single submitter clinical testing This missense variant replaces glutamine with glutamic acid at codon 349 of the MSH6 protein. Computational prediction suggests that this variant may not impact protein structure and function (internally defined REVEL score threshold <= 0.5, PMID: 27666373). To our knowledge, functional studies have not been reported for this variant. This variant has not been reported in individuals affected with hereditary cancer in the literature. This variant has been identified in 1/251288 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.
Labcorp Genetics (formerly Invitae), Labcorp RCV000800340 SCV000940048 likely benign Hereditary nonpolyposis colorectal neoplasms 2023-12-07 criteria provided, single submitter clinical testing
All of Us Research Program, National Institutes of Health RCV004001261 SCV004837558 uncertain significance Lynch syndrome 2023-05-30 criteria provided, single submitter clinical testing This missense variant replaces glutamine with glutamic acid at codon 349 of the MSH6 protein. Computational prediction suggests that this variant may not impact protein structure and function (internally defined REVEL score threshold <= 0.5, PMID: 27666373). To our knowledge, functional studies have not been reported for this variant. This variant has not been reported in individuals affected with hereditary cancer in the literature. This variant has been identified in 1/251288 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.
Ambry Genetics RCV000580956 SCV005451179 uncertain significance Hereditary cancer-predisposing syndrome 2024-10-20 criteria provided, single submitter clinical testing The c.1045C>G (p.Q349E) alteration is located in exon 4 (coding exon 4) of the MSH6 gene. This alteration results from a C to G substitution at nucleotide position 1045, causing the glutamine (Q) at amino acid position 349 to be replaced by a glutamic acid (E). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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.