Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000658274 | SCV000780045 | uncertain significance | not provided | 2018-05-17 | criteria provided, single submitter | clinical testing | A variant of uncertain significance has been identified in the PRRT2 gene. The c.-65-2dupA variant has not been published as a pathogenic variant, nor has it been reported as a benign variant to our knowledge. No data are available from ethnically-matched control populations to assess the frequency of this variant. Several in silico splice prediction models predict that c.-65-2dupA diminishes the natural acceptor site of intron 1 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. |