ClinVar Miner

Submissions for variant NM_002253.4(KDR):c.1136C>T (p.Ala379Val)

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
Clinical Genomics Laboratory, Washington University in St. Louis RCV003459019 SCV004177189 uncertain significance Tufted angioma of skin 2023-08-17 criteria provided, single submitter clinical testing The KDR c.1136C>T (p.Ala379Val) variant was identified at near heterozygous allelic fraction. It has been reported in a somatic state in two Chinese individuals affected with endometrioid endometrial carcinoma (Wang Y et al PMID: 30886832) but to our knowledge, it has not been reported in the literature in a germline state. The highest population minor allele frequency in the population database genome aggregation database (v.2.1.1) is 0.027%. Computational predictors suggest that the variant does not impact KDR function. Due to limited information, and based on ACMG/AMP guidelines for variant interpretation (Richards S et al., PMID: 25741868), the clinical significance of this variant is uncertain at this time.

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.