Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001218511 | SCV001390396 | pathogenic | Glycogen storage disease IXa1 | 2022-11-02 | criteria provided, single submitter | clinical testing | For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 947434). This premature translational stop signal has been observed in individual(s) with clinical features of glycogen storage disease type IXa (PMID: 28283841). This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Trp402*) in the PHKA2 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in PHKA2 are known to be pathogenic (PMID: 7711737, 10330341). |