Total submissions: 1
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Women's Health and Genetics/Laboratory Corporation of America, |
RCV001261504 | SCV001438801 | pathogenic | Fabry disease | 2020-08-26 | criteria provided, single submitter | clinical testing | Variant summary: The variant identified by MLPA or other technology involves the deletion of exons 5-7 in the GLA gene. A presumed nomenclature of c.(639+1_640-1)_(*19_?)del has been designated for the purposes of this classification. Although exact breakpoints of this deletion are not known, it is expected to result in a loss of protein function of the GLA gene product, a known mechanism of disease. The variant was absent in 16120 control chromosomes (gnomAD, Structural Variants dataset). c.(639+1_640-1)_(*19_?)del has been reported in the literature in at-least one individual affected with classic Fabry Disease (example, Rodrguez-Mar_2003). At least one publication reports experimental evidence evaluating an impact on protein function. The most pronounced variant effect results in loss of GLA enzyme activity (example, Rodrguez-Mar_2003). No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar after 2014. Based on the evidence outlined above, the variant was classified as pathogenic. |