ClinVar Miner

Submissions for variant NM_002055.5(GFAP):c.989G>C (p.Arg330Pro)

dbSNP: rs983143417
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
Undiagnosed Diseases Network, NIH RCV000625961 SCV000746559 uncertain significance Alexander disease 2016-04-04 criteria provided, single submitter clinical testing This VUS was found in a 34-year-old female with retinitis pigmentosa (thought to be unrelated to this finding), left-sided hemidystonia, hemiplegia, truncal and axial dystonia, left-sided muscle atrophy, brain tumors, constipation and functional megacolon, macrocephaly, poor dentition, mild scoliosis, hyperpigmented macules on forearms and seborrhea of the scalp. This individual has been reported in PMID: 30046660.

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.