ClinVar Miner

Submissions for variant NM_201525.4(ADGRG1):c.308T>C (p.Leu103Pro)

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
3billion, Medical Genetics RCV003314365 SCV004013653 uncertain significance Bilateral frontoparietal polymicrogyria criteria provided, single submitter clinical testing The variant is not observed in the gnomAD v2.1.1 dataset. Shared with similarly affected family member (EPK22-VFKX) In silico tool predictions suggest damaging effect of the variant on gene or gene product (REVEL: 0.32; 3Cnet: 0.90). Therefore, this variant is classified as Uncertain significance according to the recommendation of ACMG/AMP guideline.

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.