Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001382806 | SCV001581723 | pathogenic | Glycogen storage disease IXb | 2020-08-05 | criteria provided, single submitter | clinical testing | This variant is an out-of-frame deletion of the genomic region encompassing exon(s) 5-7 of the PHKB 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 PHKB-related conditions. Loss-of-function variants in PHKB are known to be pathogenic (PMID: 9215682, 9326319). For these reasons, this variant has been classified as Pathogenic. |