Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Center for Pediatric Genomic Medicine, |
RCV000423807 | SCV000511142 | likely benign | not provided | 2016-11-30 | criteria provided, single submitter | clinical testing | Converted during submission to Likely benign. |
Gene |
RCV000423807 | SCV000729547 | benign | not provided | 2020-01-29 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002314129 | SCV000847547 | benign | Inborn genetic diseases | 2016-11-03 | criteria provided, single submitter | clinical testing | This alteration is classified as benign based on a combination of the following: 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. |
Invitae | RCV002521511 | SCV002989753 | uncertain significance | Episodic ataxia type 2; Developmental and epileptic encephalopathy, 42 | 2023-07-07 | criteria provided, single submitter | clinical testing | This variant has not been reported in the literature in individuals affected with CACNA1A-related conditions. ClinVar contains an entry for this variant (Variation ID: 377042). 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. The frequency data for this variant in the population databases is considered unreliable, as metrics indicate poor data quality at this position in the gnomAD database. This variant, c.6659_6661del, results in the deletion of 1 amino acid(s) of the CACNA1A protein (p.His2220del), but otherwise preserves the integrity of the reading frame. |
Prevention |
RCV003985329 | SCV004791232 | likely benign | CACNA1A-related disorder | 2020-03-18 | criteria provided, single submitter | clinical testing | This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications). |