ClinVar Miner

Submissions for variant NM_001615.4(ACTG2):c.188G>A (p.Arg63Gln)

dbSNP: rs1573462811
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
Wangler Lab, Baylor College of Medicine RCV000855536 SCV000994857 pathogenic Visceral myopathy 1 2019-09-30 criteria provided, single submitter case-control The p.R63Q was seen in 3 individuals with visceral myopathy in the BCM MMIHS cohort as of September 2019. One was de novo, one family was maternally inherited and the mother exhibited uterine atony, and the other variant's inheritance could not be determined. The p.R63G variant in ACTG2 is also pathogenic.
OMIM RCV001535810 SCV001752409 pathogenic Megacystis-microcolon-intestinal hypoperistalsis syndrome 5 2021-07-15 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.