ClinVar Miner

Submissions for variant NM_001614.5(ACTG1):c.548G>A (p.Arg183Gln)

dbSNP: rs781945750
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
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000614857 SCV000712149 uncertain significance not specified 2016-06-08 criteria provided, single submitter clinical testing The p.Arg183Gln variant in ACTG1 has not been previously reported in individuals with hearing loss. This variant has been identified in 1/65442 European chromos omes by the Exome Aggregation Consortium (ExAC, http://exac.broadinstitute.org; dbSNP rs781945750). Although this variant has been seen in the general populatio n, its frequency is not high enough to rule out a pathogenic role. Computational prediction tools and conservation analyses suggest the variant may impact the p rotein, though this data is not sufficient to determine pathogenicity. In summar y, the clinical significance of the p.Arg183Gln variant is uncertain.
GeneDx RCV004701698 SCV005201375 pathogenic not provided 2023-10-30 criteria provided, single submitter clinical testing Missense variants in this gene are a common cause of disease and they are underrepresented in the general population; In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; This variant is associated with the following publications: (PMID: 29986705, 30622556, 31706454)

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.