Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000497474 | SCV000590181 | uncertain significance | not provided | 2017-06-05 | criteria provided, single submitter | clinical testing | A variant of uncertain significance has been identified in the PYGM gene. The c.1620+3 G>T variant has not been published as a pathogenic variant, nor has it been reported as a benign variant to our knowledge. The c.1620+3 G>T variant is not observed in large population cohorts (Lek et al., 2016; 1000 Genomes Consortium et al., 2015; Exome Variant Server). Several in-silico splice prediction models predict that c.1620+3 G>T damages or destroys the natural splice donor site in intron 13 and may lead to abnormal gene splicing. However, in the absence of RNA/functional studies, the actual effect of this sequence change in this individual is unknown. Therefore, based on the currently available information, it is unclear whether this variant is a pathogenic variant or a rare benign variant. |
Natera, |
RCV001834609 | SCV002092316 | uncertain significance | Glycogen storage disease, type V | 2021-03-18 | no assertion criteria provided | clinical testing |