Total submissions: 3
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Gene |
RCV000521823 | SCV000621842 | uncertain significance | not provided | 2017-10-25 | criteria provided, single submitter | clinical testing | A variant of uncertain significance has been identified in the CACNA1A gene. The S2193L variant has not been published as a pathogenic variant, nor has it been reported as a benign variant to our knowledge. The S2193L variant is not observed at a significant frequency in large population cohorts (Lek et al., 2016). The S2193L 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. However, this substitution occurs at a position that is not conserved. In silico analysis is inconsistent in its predictions as to whether or not the variant is damaging to the protein structure/function. Therefore, based on the currently available information, it is unclear whether this variant is a pathogenic variant or a rare benign variant. |
| Invitae | RCV001858044 | SCV002155590 | likely benign | Episodic ataxia type 2; Developmental and epileptic encephalopathy, 42 | 2023-12-11 | criteria provided, single submitter | clinical testing | |
| Genome |
RCV003458453 | SCV004176871 | not provided | Episodic ataxia type 2; Migraine, familial hemiplegic, 1 | no assertion provided | phenotyping only | Variant classified as Uncertain significance and reported on 04-10-2020 by GeneDx. This variant was also identified in the participant's parent. Phenotypic data from the proband has been submitted with this variant. Additional phenotypic information for family members might be available from GenomeConnect. Assertions are reported exactly as they appear on the patient provided laboratory report. GenomeConnect does not attempt to reinterpret the variant. The IDDRC-CTSA National Brain Gene Registry (BGR) is a study funded by the U.S. National Center for Advancing Translational Sciences (NCATS) and includes 13 Intellectual and Developmental Disability Research Center (IDDRC) institutions. The study is led by Principal Investigator Dr. Philip Payne from Washington University. The BGR is a data commons of gene variants paired with subject clinical information. This database helps scientists learn more about genetic changes and their impact on the brain and behavior. Participation in the Brain Gene Registry requires participation in GenomeConnect. More information about the Brain Gene Registry can be found on the study website - https://braingeneregistry.wustl.edu/. |