Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000520512 | SCV000617426 | pathogenic | not provided | 2021-09-22 | criteria provided, single submitter | clinical testing | Published functional studies demonstrate an almost abolishment of ClC-4 currents that lead to a damaging effect (Veeramah et al., 2013); Not observed in large population cohorts (Lek et al., 2016); 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: 23647072, 27550844) |
Ce |
RCV000520512 | SCV001250199 | pathogenic | not provided | 2020-02-01 | criteria provided, single submitter | clinical testing | |
Institute of Human Genetics, |
RCV000087143 | SCV002549848 | pathogenic | Intellectual disability, X-linked 49 | 2022-07-04 | criteria provided, single submitter | clinical testing | This variant was identified as hemizygous._x000D_ Criteria applied: PS1, PS2, PM1, PS4_SUP, PM2_SUP, PP3 |
3billion | RCV000087143 | SCV004013605 | pathogenic | Intellectual disability, X-linked 49 | criteria provided, single submitter | clinical testing | The variant is not observed in the gnomAD v2.1.1 dataset. Missense changes are a common disease-causing mechanism. In silico tool predictions suggest damaging effect of the variant on gene or gene product (REVEL: 0.88; 3Cnet: 0.99). Same nucleotide change resulting in same amino acid change has been previously reported as pathogenic/likely pathogenic with strong evidence (ClinVar ID: VCV000100781 / PMID: 23647072). The variant has been previously reported as de novo in a similarly affected individual (PMID: 23647072). Therefore, this variant is classified as Pathogenic according to the recommendation of ACMG/AMP guideline. | |
OMIM | RCV000087143 | SCV000120005 | pathogenic | Intellectual disability, X-linked 49 | 2013-07-01 | no assertion criteria provided | literature only |