Total submissions: 3
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Gene |
RCV000489690 | SCV000577838 | likely pathogenic | not provided | 2015-04-13 | criteria provided, single submitter | clinical testing | The I314T variant in the KCNA1 gene has not been published as a pathogenic variant, nor has it been reported as a benign polymorphism to our knowledge. The I314T variant was not observed in approximately 6500 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, indicating it is not a common benign variant in these populations. The I314T 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. In silico analysis predicts this variant is probably damaging to the protein structure/function. Additionally, missense variants in nearby residues (L305F, R307C, and G311S) have been reported in the Human Gene Mutation Database in association with episodic ataxia (Stenson et al., 2014), supporting the functional importance of this region of the protein. The I314T variant is a strong candidate for a disease-causing variant, However, the possibility that it may be a rare benign variant cannot be excluded |
| Athena Diagnostics Inc | RCV000489690 | SCV000842528 | likely pathogenic | not provided | 2018-07-26 | criteria provided, single submitter | clinical testing | |
| Revvity Omics, |
RCV001782976 | SCV002016764 | likely pathogenic | Episodic ataxia type 1 | 2020-06-29 | criteria provided, single submitter | clinical testing |