Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV002277555 | SCV002567558 | likely pathogenic | not provided | 2022-02-01 | criteria provided, single submitter | clinical testing | Published functional studies demonstrate a decrease in CLCN2 current activation (Gaitan-Penas et al. 2017); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; This variant is associated with the following publications: (PMID: 31589614, 28905383, 28746943) |
Center for Genomic Medicine, |
RCV003992233 | SCV004809540 | likely pathogenic | Familial hyperaldosteronism type II | 2024-04-04 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000201810 | SCV000256588 | not provided | Leukoencephalopathy with mild cerebellar ataxia and white matter edema | no assertion provided | literature only | ||
Prevention |
RCV004553102 | SCV004796850 | pathogenic | CLCN2-related disorder | 2024-01-31 | no assertion criteria provided | clinical testing | The CLCN2 c.1412G>A variant is predicted to result in the amino acid substitution p.Arg471His. This variant has been reported in the homozygous state in one patient with gait-speech difficulty, dysarthria, nystagmus, ataxic gait, dysmetria and brain MRI findings consistent with CLCN2-related disease (Patient 1, Zeydan et al. 2017. PubMed ID: 28746943). This variant is reported in 0.016% of alleles in individuals of East Asian descent in gnomAD. In vitro functional characterization showed that this variant leads to significantly reduced current when compared to controls (Gaitán-Peñas. 2017. PubMed ID: 28905383). This variant is interpreted as pathogenic. |