ClinVar Miner

Submissions for variant NM_000169.2(GLA):c.1225C>G (p.Pro409Ala) (rs878853698)

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
Integrated Genetics/Laboratory Corporation of America RCV000586514 SCV000695732 pathogenic Fabry disease 2017-01-25 criteria provided, single submitter clinical testing Variant summary: The GLA c.1225C>G (p.Pro409Ala) variant involves the alteration of a conserved nucleotide. 5/5 in silico tools predict a damaging outcome for this variant. This variant is absent in 87694 control chromosomes, but has been reported in affected individuals in the literature. Additionally, alpha-Gal activity was reported as <10% in HEK-293 cells bearing this mutation. Taken together, this variant is classified as pathogenic.

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.