ClinVar Miner

Submissions for variant NM_201525.4(ADGRG1):c.811C>T (p.Arg271Ter)

dbSNP: rs768441855
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
GeneDx RCV000760359 SCV000890221 pathogenic not provided 2023-09-05 criteria provided, single submitter clinical testing Nonsense variant predicted to result in protein truncation or nonsense mediated decay in a gene for which loss of function is a known mechanism of disease; Not observed at significant frequency in large population cohorts (gnomAD); This variant is associated with the following publications: (PMID: 30511534, 25642806)
Labcorp Genetics (formerly Invitae), Labcorp RCV000760359 SCV001393612 pathogenic not provided 2023-12-30 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Arg271*) in the ADGRG1 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in ADGRG1 are known to be pathogenic (PMID: 15044805, 20929962). This variant is present in population databases (rs768441855, gnomAD 0.003%). This premature translational stop signal has been observed in individuals with bilateral frontoparietal polymicrogyria (PMID: 25642806, 30511534). It has also been observed to segregate with disease in related individuals. ClinVar contains an entry for this variant (Variation ID: 620113). For these reasons, this variant has been classified as Pathogenic.
Fulgent Genetics, Fulgent Genetics RCV005010758 SCV005640243 pathogenic Bilateral frontoparietal polymicrogyria; Polymicrogyria, bilateral perisylvian, autosomal recessive 2024-03-05 criteria provided, single submitter clinical testing
OMIM RCV003328470 SCV004035029 pathogenic Bilateral frontoparietal polymicrogyria 2023-09-12 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.