Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV001564670 | SCV001787869 | pathogenic | not provided | 2020-05-05 | criteria provided, single submitter | clinical testing | Published functional studies demonstrate reduced transactivation activity (Suzuki et al., 2014); Frameshift variant predicted to result in protein truncation, as the last 183 amino acids are replaced with 18 different amino acids, and other loss-of-function variants have been reported downstream in the Human Gene Mutation Database (Stenson et al., 2014; Not observed in large population cohorts (Lek et al., 2016); This variant is associated with the following publications: (PMID: 24804704) |
Anophthalmia/Microphthalmia Research Registry, |
RCV001267864 | SCV001446350 | pathogenic | Anophthalmia/microphthalmia-esophageal atresia syndrome | no assertion criteria provided | research | Patient has symptoms similar to SOX2 related disease and is suspected to be pathogenic |