Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000760736 | SCV000890629 | likely pathogenic | not provided | 2018-09-25 | criteria provided, single submitter | clinical testing | The Q796X variant in the CLCN2 gene has not been reported previously as a pathogenic variant nor as a benign variant, to our knowledge. This variant is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. The Q796X variant is observed in 1/15302 (0.0065%) alleles from individuals of African background in large population cohorts (Lek et al., 2016). We interpret Q796X as a likely pathogenic variant. |
Gene |
RCV000201824 | SCV000256595 | not provided | Leukoencephalopathy with mild cerebellar ataxia and white matter edema | no assertion provided | literature only |