Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000493438 | SCV000582636 | likely pathogenic | not provided | 2017-05-17 | criteria provided, single submitter | clinical testing | The G269D variant in the CLCN4 gene has not been reported previously as a pathogenic variant, nor as a benign variant, to our knowledge. The G269D variant is not observed in large population cohorts (Lek et al., 2016; 1000 Genomes Consortium et al., 2015; Exome Variant Server). The G269D 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 across species, and in silico analysis predicts this variant is probably damaging to the protein structure/function. We interpret G269D as a likely pathogenic variant. |
Genome |
RCV000509195 | SCV000607256 | not provided | CLCN4-related disorder | no assertion provided | phenotyping only | GenomeConnect assertions are reported exactly as they appear on the patient-provided report from the testing laboratory. GenomeConnect staff make no attempt to reinterpret the clinical significance of the variant. |