Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000478673 | SCV000573908 | likely pathogenic | not provided | 2017-03-09 | criteria provided, single submitter | clinical testing | The c.2627-1G>A variant in the COL4A1 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 acceptor site in intron 32, which is predicted to cause abnormal gene splicing. The c.2627-1G>A variant is not observed in large population cohorts (Lek et al., 2016; 1000 Genomes Consortium et al., 2015; Exome Variant Server). Therefore, we interpret c.2627-1G>A as a likely pathogenic variant. |
Institute of Human Genetics, |
RCV003388836 | SCV004100740 | uncertain significance | Brain small vessel disease 1 with or without ocular anomalies | 2023-08-09 | criteria provided, single submitter | clinical testing | Criteria applied: PVS1_MOD,PS4_SUP,PM2_SUP |