ClinVar Miner

Submissions for variant NM_000169.3(GLA):c.796G>A (p.Asp266Asn)

dbSNP: rs869312407
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
3billion RCV003153189 SCV003842054 pathogenic Fabry disease 2023-02-23 criteria provided, single submitter clinical testing The variant is not observed in the gnomAD v2.1.1 dataset. The variant is located in a mutational hot spot and/or well-established functional domain in which established pathogenic variants have been reported. Missense changes are a common disease-causing mechanism. Functional studies provide strong evidence of the variant having a damaging effect on the gene or gene product (PMID: 19287194, 20505683, 27657681). In silico tool predictions suggest damaging effect of the variant on gene or gene product (REVEL: 0.93; 3Cnet: 1.00). Same nucleotide change resulting in same amino acid change has been previously reported to be associated with GLA related disorder (PMID: 11076046 / 3billion dataset). Different missense changes at the same codon (p.Asp266Ala, p.Asp266Glu, p.Asp266Gly, p.Asp266His, p.Asp266Tyr, p.Asp266Val) have been reported as pathogenic/likely pathogenic with strong evidence (ClinVar ID: VCV000010735 / PMID: 10916280, 12428061, 18849176, 23568732, 33204599, 7504405). Therefore, this variant is classified as Pathogenic according to the recommendation of ACMG/AMP guideline.

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.