Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000498878 | SCV000590696 | uncertain significance | not provided | 2017-06-28 | criteria provided, single submitter | clinical testing | A variant of uncertain significance has been identified in the PCNT gene. The c.6922-5_6922-4insCCTGA variant has not been published as a pathogenic variant, nor has it been reported as a benign variant to our knowledge. The c.6922-5_6922-4insCCTGA 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.6922-5_6922-4insCCTGA damages or destroys the natural acceptor site in intron 30 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. |