Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Labcorp Genetics |
RCV003623002 | SCV004437861 | pathogenic | Fabry disease | 2023-02-14 | criteria provided, single submitter | clinical testing | This sequence change creates a premature translational stop signal (p.Arg301Aspfs*16) in the GLA gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in GLA are known to be pathogenic (PMID: 10666480, 12175777). This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with GLA-related conditions. For these reasons, this variant has been classified as Pathogenic. |