Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000579345 | SCV000681385 | likely pathogenic | not provided | 2018-01-23 | criteria provided, single submitter | clinical testing | The c.655-8 A>G variant has been reported apparently de novo in a patient with a clinical diagnosis of oral-facial-digital syndrome (Bruel et al., 2017). The c.655-8 A>G variant is not observed in large population cohorts (Lek et al., 2016). Several in silico splice prediction models predict that c.655-8 A>G destroys the natural splice acceptor site which 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, this variant is likely pathogenic; however, the possibility that it is benign cannot be excluded. |