Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000760570 | SCV000890461 | likely pathogenic | not provided | 2018-05-31 | criteria provided, single submitter | clinical testing | The Q909X variant in the PHKB gene has not been reported previously as a pathogenic variant nor as a benign variant, to our knowledge. This variant is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. The Q909X variant is not observed at a significant frequency in large population cohorts (Lek et al., 2016). We interpret Q909X as a likely pathogenic variant. |
Invitae | RCV003626639 | SCV004475792 | pathogenic | Glycogen storage disease IXb | 2023-09-30 | criteria provided, single submitter | clinical testing | This sequence change creates a premature translational stop signal (p.Gln909*) in the PHKB gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in PHKB are known to be pathogenic (PMID: 9215682, 9326319). This variant is present in population databases (rs748262135, gnomAD 0.003%). This variant has not been reported in the literature in individuals affected with PHKB-related conditions. ClinVar contains an entry for this variant (Variation ID: 620209). For these reasons, this variant has been classified as Pathogenic. |