Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000658295 | SCV000780066 | likely pathogenic | not provided | 2018-05-17 | criteria provided, single submitter | clinical testing | A variant that is likely pathogenic has been identified in the PAFAH1B1 gene. The c.117+5 G>C variant has not been published as a pathogenic variant, nor has it been reported as a benign variant to our knowledge. The c.117+5 G>C variant is not observed in large population cohorts (Lek et al., 2016). The c.117+5 G>C variant is an intronic +5 splice site variant in a gene for which loss-of-function is a known mechanism of disease, and both in silico predictors and evolutionary conservation support a deleterious effect. Therefore, this variant is likely pathogenic; however, the possibility that it is benign cannot be excluded. |