Total submissions: 2
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Ambry Genetics | RCV002366902 | SCV002666373 | likely benign | Inborn genetic diseases | 2017-07-20 | criteria provided, single submitter | clinical testing | This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity. |
| Labcorp Genetics |
RCV003098325 | SCV003312182 | uncertain significance | Episodic ataxia type 2; Developmental and epileptic encephalopathy, 42 | 2020-03-10 | criteria provided, single submitter | clinical testing | This variant has not been reported in the literature in individuals with CACNA1A-related conditions. While this variant is present in population databases (rs768950814), the frequency information is unreliable, as metrics indicate poor data quality at this position in the ExAC database. This variant, c.6661_6662insACCACC, results in the insertion of 2 amino acid(s) to the CACNA1A protein (p.His2219_His2220dup), but otherwise preserves the integrity of the reading frame. Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. |