Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000522671 | SCV000621957 | uncertain significance | not provided | 2017-11-02 | criteria provided, single submitter | clinical testing | The c.4704+16 A>G variant has not been published as a pathogenic variant, nor has it been reported as a benignvariant to our knowledge. This variant is not observed at a significant frequency in large population cohorts (Lek etal., 2016). Several in-silico splice prediction models predict that c.4704+16 A>G creates a cryptic splice donor site which may supplant the natural splice donor site 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 onthe currently available information, it is unclear whether this variant is a pathogenic variant or a rare benign variant. |