ClinVar Miner

Submissions for variant NM_000222.3(KIT):c.2119_2139dup (p.Leu707_Ser713dup)

dbSNP: rs1722449916
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
Invitae RCV001050921 SCV001215050 uncertain significance Gastrointestinal stromal tumor 2022-07-03 criteria provided, single submitter clinical testing This variant, c.2119_2139dup, results in the insertion of 7 amino acid(s) of the KIT protein (p.Leu707_Ser713dup), but otherwise preserves the integrity of the reading frame. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site. ClinVar contains an entry for this variant (Variation ID: 847388). This variant has not been reported in the literature in individuals affected with KIT-related conditions. This variant is not present in population databases (gnomAD no frequency).
Baylor Genetics RCV001050921 SCV004190384 uncertain significance Gastrointestinal stromal tumor 2023-06-18 criteria provided, single submitter clinical testing

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.