Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000014590 | SCV002245429 | pathogenic | Glycogen storage disease IXb | 2023-10-04 | criteria provided, single submitter | clinical testing | This sequence change creates a premature translational stop signal (p.Tyr419*) 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 (rs121918021, gnomAD 0.01%). This premature translational stop signal has been observed in individual(s) with glycogen storage disease (PMID: 9215682). This variant is also known as Y418ter. ClinVar contains an entry for this variant (Variation ID: 13620). For these reasons, this variant has been classified as Pathogenic. |
OMIM | RCV000014590 | SCV000034844 | pathogenic | Glycogen storage disease IXb | 1997-07-01 | no assertion criteria provided | literature only |