Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Counsyl | RCV000410338 | SCV000486159 | likely pathogenic | Glycogen storage disease, type V | 2016-04-06 | criteria provided, single submitter | clinical testing | |
Baylor Genetics | RCV000410338 | SCV004207236 | likely pathogenic | Glycogen storage disease, type V | 2023-08-31 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000410338 | SCV004370487 | pathogenic | Glycogen storage disease, type V | 2023-04-17 | criteria provided, single submitter | clinical testing | For these reasons, this variant has been classified as Pathogenic. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site. ClinVar contains an entry for this variant (Variation ID: 370762). This variant has not been reported in the literature in individuals affected with PYGM-related conditions. This variant is present in population databases (rs752848974, gnomAD 0.02%). This sequence change creates a premature translational stop signal (p.Glu573*) in the PYGM gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in PYGM are known to be pathogenic (PMID: 8316268, 16786513). |