ClinVar Miner

Submissions for variant NM_000222.3(KIT):c.1290A>G (p.Ala430=)

gnomAD frequency: 0.00004  dbSNP: rs55966164
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
Labcorp Genetics (formerly Invitae), Labcorp RCV001085838 SCV000283901 benign Gastrointestinal stromal tumor 2024-01-30 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000233334 SCV001154194 likely benign not provided 2019-02-01 criteria provided, single submitter clinical testing
Ambry Genetics RCV001010783 SCV001171025 likely benign Hereditary cancer-predisposing syndrome 2018-12-24 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
PreventionGenetics, part of Exact Sciences RCV003977645 SCV004795098 benign KIT-related disorder 2023-12-05 no assertion criteria provided clinical testing This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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.