ClinVar Miner

Submissions for variant NM_000169.3(GLA):c.280T>A (p.Cys94Ser)

dbSNP: rs2147480697
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 RCV001374745 SCV001571674 likely pathogenic Fabry disease criteria provided, single submitter clinical testing The c.280T>A (p.Cys94Ser) variant, located in exon 2 of the GLA gene, has been previously reported in association with Fabry didease in the literature (PMID:26415523, 11668641). It was detected by our laboratory in four members of a greek family affected with Fabry disease. Bioinformatic analysis by SIFT and PolyPhen2 algorithms predicted this mutation as deleterious and probably damaging, respectively. The variant was not detected amongst the 31360 individuals of the Genome Aggregation Database (gnomAD), indicating that it is not a common variant. Missense variants in the same residue have been previously reported in association with Fabry disease (PMID: 9100224, 26415523). Taking all the above into account and according to ACMG Guidelines (Criteria: PM1, PM2, PM5, PP1, PP2, PP3, PP4, PP5) the variant is considered likely 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.