Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000681358 | SCV000808821 | uncertain significance | not provided | 2018-07-02 | criteria provided, single submitter | clinical testing | The c.3379+1G>C variant in the SOS2 gene has not been reported previously as a pathogenic variant nor as a benign variant, to our knowledge. This splice site variant destroys the canonical splice donor site in intron 21, which is predicted to cause abnormal gene splicing resulting in an in-frame protein product with an abnormal message. However, in the absence of RNA/functional studies, the actual effect of c.3379+1G>C in this individual is unknown. This variant is not observed in large population cohorts (Lek et al., 2016). We interpret c.3379+1G>C as a variant of uncertain significance. |