ClinVar Miner

Submissions for variant NM_001258281.1(MSH2):c.-30-2_-15del (rs1553348867)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 1
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000536352 SCV000625297 uncertain significance Hereditary nonpolyposis colon cancer 2017-01-09 criteria provided, single submitter clinical testing This sequence change deletes 18 nucleotides from exon 1 of the MSH2 mRNA (c.167_184delAGGTGTTCAAGACCCAGG). This leads to the deletion of 6 amino acid residue(s) in the MSH2 protein (p.Glu56_Gln61del) but otherwise preserves the integrity of the reading frame. This variant is not present in population databases (ExAC no frequency) and has not been reported in the literature in individuals with a MSH2-related disease. Experimental studies and prediction algorithms are not available for this variant, and the functional significance of the deleted amino acid(s) is currently unknown. In summary, this variant is a novel in-frame deletion  with uncertain impact on protein function. It has been 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.