Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ce |
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. |