Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001388855 | SCV001590005 | pathogenic | Fabry disease | 2020-03-06 | criteria provided, single submitter | clinical testing | For these reasons, this variant has been classified as Pathogenic. This variant disrupts the C-terminus of the GLA protein. Other variant(s) that disrupt this region (p.Val376Profs*10) have been determined to be pathogenic (Invitae). This suggests that variants that disrupt this region of the protein are likely to be causative of disease. This variant has not been reported in the literature in individuals with GLA-related conditions. This variant is not present in population databases (ExAC no frequency). This sequence change results in a premature translational stop signal in the GLA gene (p.Pro343Leufs*5). While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 87 amino acids of the GLA protein. |