ClinVar Miner

Submissions for variant NM_201525.4(ADGRG1):c.-36+10587_-36+10601del

dbSNP: rs587777312
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 RCV002514573 SCV003441998 pathogenic not provided 2023-11-28 criteria provided, single submitter clinical testing This sequence change falls in intron 1 of the ADGRG1 gene. It does not directly change the encoded amino acid sequence of the ADGRG1 protein. This variant is present in population databases (no rsID available, gnomAD 0.01%). This variant has been observed in individuals with restricted polymicrogyria (PMID: 24531968). It has also been observed to segregate with disease in related individuals. Algorithms developed to predict the effect of variants on protein structure and function are not available or were not evaluated for this variant. Experimental studies have shown that this variant affects ADGRG1 function (PMID: 24531968). For these reasons, this variant has been classified as Pathogenic.
OMIM RCV000114942 SCV000148844 pathogenic Polymicrogyria, bilateral perisylvian, autosomal recessive 2014-02-14 no assertion criteria provided literature only

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.