Total submissions: 1
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Women's Health and Genetics/Laboratory Corporation of America, |
RCV002283397 | SCV002571948 | likely pathogenic | Glycogen storage disease, type IV | 2022-08-11 | criteria provided, single submitter | clinical testing | Variant summary: The variant identified by MLPA or other technology involves the deletion of exon 16 (last exon) in the GBE1 gene. A presumed nomenclature of c.(2052+1_2053-1)_(*709_?)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 large in-frame deletion in the GBE1 gene, a known mechanism of disease. The variant was absent in 21694 control chromosomes (gnomAD SV). c.(2052+1_2053-1)_(*709_?)del has been reported in the literature in individuals affected with Glycogen Storage Disease, Type IV, including at least one homozygote (Raju_2008, Wang_2013). These data indicate that the variant may be associated with disease. To our knowledge, no experimental evidence demonstrating an impact on protein function has been reported. One clinical diagnostic laboratory has submitted clinical-significance assessments for this variant to ClinVar after 2014 without evidence for independent evaluation and classified the variant as pathogenic/likely pathogenic. Based on the evidence outlined above, the variant was classified as likely pathogenic. |