Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000489284 | SCV000577275 | uncertain significance | not provided | 2017-04-05 | criteria provided, single submitter | clinical testing | The c.1563 A>G variant has not been published as a pathogenic variant, nor has it been reported as a benign variant to our knowledge. The c.1563 A>G variant was not observed at any significance frequency in the in the ExAC dataset (Lek et al., 2016). In-silico splice prediction models are inconsistent in their predictions as to whether or not this variant is results in abnormal splicing. In the absence of RNA/functional studies, the 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. |