Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Labcorp Genetics |
RCV000020502 | SCV000932059 | pathogenic | Glycogen storage disease, type VI | 2022-03-22 | 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: 21337). This premature translational stop signal has been observed in individual(s) with glycogen storage disease type VI (PMID: 32268899). This variant is present in population databases (rs113993973, gnomAD 0.005%). This sequence change creates a premature translational stop signal (p.Arg94*) in the PYGL gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in PYGL are known to be pathogenic (PMID: 9536091, 21646031). |
Fulgent Genetics, |
RCV000020502 | SCV005629308 | pathogenic | Glycogen storage disease, type VI | 2024-02-07 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000020502 | SCV000040952 | not provided | Glycogen storage disease, type VI | no assertion provided | literature only |