ClinVar Miner

Submissions for variant NM_000251.3(MSH2):c.633del (p.Lys212fs)

dbSNP: rs1114167821
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 RCV000491117 SCV000580465 pathogenic Hereditary cancer-predisposing syndrome 2020-11-12 criteria provided, single submitter clinical testing The c.633delG pathogenic mutation, located in coding exon 3 of the MSH2 gene, results from a deletion of one nucleotide at nucleotide position 633, causing a translational frameshift with a predicted alternate stop codon (p.K212Nfs*2). This mutation (also designated as c.630delG) has been reported in Korean and Chinese hereditary non-polyposis colorectal cancer (HNPCC)/Lynch syndrome families (Yoon S et al. Cancer Genet. Cytogenet., 2009 Jan;188:61-4; Jiang W et al. Int J Cancer, 2019 05;144:2161-2168). In addition to the clinical data presented in the literature, 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. RCV003449348 SCV004186849 pathogenic Lynch syndrome 1 2023-07-27 criteria provided, single submitter clinical testing This variant is considered pathogenic. This variant creates a frameshift 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.