Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000256019 | SCV000321523 | likely pathogenic | not provided | 2017-02-23 | criteria provided, single submitter | clinical testing | The E643A variant in the CRB2 gene has been reported previously with another CRB2 variant in several individuals with features of CRB2-related disorder (Slavotinek et al., 2015; Lamont et al., 2016). The E643A variant is not observed at a significant frequency in large population cohorts (Lek et al., 2016; 1000 Genomes Consortium et al., 2015; Exome Variant Server). The E643A variant is a non-conservative amino acid substitution, which is likely to impact secondary protein structure as these residues differ in polarity, charge, size and/or other properties. This substitution occurs at a position that is conserved in mammals. In silico analysis predicts this variant is probably damaging to the protein structure/function. |
Invitae | RCV000256019 | SCV001508207 | likely benign | not provided | 2023-10-03 | criteria provided, single submitter | clinical testing | |
OMIM | RCV000157661 | SCV000207612 | pathogenic | Ventriculomegaly-cystic kidney disease | 2015-01-08 | no assertion criteria provided | literature only |