Total submissions: 7
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Labcorp Genetics |
RCV000012772 | SCV000819606 | pathogenic | Glycogen storage disease, type VI | 2023-01-04 | criteria provided, single submitter | clinical testing | For these reasons, this variant has been classified as Pathogenic. Studies have shown that disruption of this splice site results in 3 aberrantly spliced mRNAs and introduces a premature termination codon (PMID: 9529348). The resulting mRNA is expected to undergo nonsense-mediated decay. ClinVar contains an entry for this variant (Variation ID: 11992). Disruption of this splice site has been observed in individuals with glycogen storage disease type VI (PMID: 9529348, 32892177). This variant is present in population databases (rs113993982, gnomAD 0.006%). This sequence change affects a donor splice site in intron 14 of the PYGL gene. RNA analysis indicates that disruption of this splice site induces altered splicing and may result in an absent or disrupted protein product. |
Pathology and Clinical Laboratory Medicine, |
RCV000012772 | SCV000996283 | pathogenic | Glycogen storage disease, type VI | criteria provided, single submitter | clinical testing | ||
Baylor Genetics | RCV000012772 | SCV001522876 | pathogenic | Glycogen storage disease, type VI | 2020-07-27 | criteria provided, single submitter | clinical testing | This variant was determined to be pathogenic according to ACMG Guidelines, 2015 [PMID:25741868]. |
3billion | RCV000012772 | SCV002573001 | pathogenic | Glycogen storage disease, type VI | 2022-09-01 | criteria provided, single submitter | clinical testing | The variant is observed at an extremely low frequency in the gnomAD v2.1.1 dataset (total allele frequency: 0.004%). Canonical splice site is predicted to alter splicing and result in a loss or disruption of normal protein function. Multiple pathogenic loss-of-function variants are reported downstream of the variant. The variant has been reported at least twice as pathogenic with clinical assertions and evidence for the classification (ClinVar ID: VCV000011992). Therefore, this variant is classified as Pathogenic according to the recommendation of ACMG/AMP guideline. |
Center for Genomic Medicine, |
RCV000012772 | SCV004804946 | pathogenic | Glycogen storage disease, type VI | 2024-03-17 | criteria provided, single submitter | research | |
OMIM | RCV000012772 | SCV000033007 | pathogenic | Glycogen storage disease, type VI | 1998-04-01 | no assertion criteria provided | literature only | |
Gene |
RCV000012772 | SCV000040944 | not provided | Glycogen storage disease, type VI | no assertion provided | literature only |