Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000489238 | SCV000577524 | uncertain significance | not provided | 2018-10-23 | criteria provided, single submitter | clinical testing | The c.2495-10 T>A variant has not been published as a pathogenic variant, nor has it been reported as a benign variant to our knowledge. The c.2495-10 T>A 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.2495-10 T>A may damage the natural splice acceptor site in intron 13 and 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 varian |