Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000579280 | SCV000681079 | uncertain significance | not provided | 2017-11-16 | criteria provided, single submitter | clinical testing | The c.7470+5 G>T variant has not been published as a pathogenic variant, nor has it been reported as a benign variant to our knowledge. The c.7470+5 G>T variant is not observed in large population cohorts (Lek et al., 2016). Several in silico splice prediction models predict that c.7470+5 G>T may damage or destroy the natural 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 on the currently available information, it is unclear whether this variant is a pathogenic variant or a rare benign variant. |