ClinVar Miner

Submissions for variant NM_000179.3(MSH6):c.2530_2534del (p.Ile843_Met844insTer)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 2
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV002455724 SCV002739279 pathogenic Hereditary cancer-predisposing syndrome 2022-09-07 criteria provided, single submitter clinical testing The c.2530_2534delATGTA variant, located in coding exon 4 of the MSH6 gene, results from a deletion of 5 nucleotides at nucleotide positions 2530 to 2534, causing a translational frameshift with a predicted alternate stop codon (p.M844*). This variant is considered to be rare based on population cohorts in the Genome Aggregation Database (gnomAD). This alteration is expected to result in loss of function by premature protein truncation or nonsense-mediated mRNA decay. As such, this alteration is interpreted as a disease-causing mutation.
Myriad Genetics, Inc. RCV003455479 SCV004186020 pathogenic Lynch syndrome 5 2023-11-14 criteria provided, single submitter clinical testing This variant is considered pathogenic. This variant creates a termination codon and is predicted to result in premature protein truncation.

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.