ClinVar Miner

Submissions for variant NM_000169.3(GLA):c.453C>G (p.Tyr151Ter)

dbSNP: rs869312305
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
CeMIA RCV001374743 SCV001571671 pathogenic Fabry disease criteria provided, single submitter clinical testing The c.453C>G (p.Tyr151Ter) variant, located in exon 3 of the GLA gene, was identified in three members (1 hemizygous male, 2 heterozygous females) of a greek family affected with Fabry disease. The variant causes interruption of the reading frame by the formation of a termination codon which results in a truncated protein. It was not detected amongst the 31360 individuals of the Genome Aggregation Database (gnomAD), indicating that it is not a common variant. Taking all the above into account and according to ACMG Guidelines (Criteria:PVS1, PM2, PP1, PP4) the variant is considered 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.