Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001032035 | SCV001195342 | pathogenic | Glycogen storage disease, type VI | 2019-10-14 | criteria provided, single submitter | clinical testing | This variant is an out-of-frame deletion of the genomic region encompassing exons 14-17 of the PYGL gene. This is expected to create a premature translational stop signal and result in an absent or disrupted protein product. This variant has not been reported in the literature in individuals with PYGL-related conditions. Loss-of-function variants in PYGL are known to be pathogenic (PMID: 9536091, 21646031). For these reasons, this variant has been classified as Pathogenic. |