ClinVar Miner

Submissions for variant NM_000169.2(GLA):c.830G>A (p.Trp277Ter) (rs886044766)

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
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000723404 SCV000330964 pathogenic not provided 2017-11-01 criteria provided, single submitter clinical testing
Integrated Genetics/Laboratory Corporation of America RCV000286285 SCV000695749 pathogenic Fabry disease 2016-12-13 criteria provided, single submitter clinical testing Variant summary: The GLA c.830G>A (p.Trp277X) variant results in a premature termination codon, predicted to cause a truncated or absent GLA protein due to nonsense mediated decay (NMD), which are commonly known mechanisms for disease. If NMD is escaped this variant is expected to truncate Aldolase-type TIM barrel and Glycosyl hydrolase domains (InterPro).Truncations downstream of this position have been classified as pathogenic by our and other laboratories (e.g. p.Arg301X,p.Glu341X, p.Glu398X, etc.). This variant is absent in 87657 control chromosomes from ExAC. This variant has been reported in literature in three males with classic Fabry disease (Topaloglu_1999, Nakano_2015). Additionally, a clinical diagnostic laboratory reported this variant in ClinVar in seven individuals who underwent GLA testing. A clinical diagnostic laboratory and multiple reputable databases have classified this variant as pathogenic. 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.