ClinVar Miner

Submissions for variant NM_001127222.2(CACNA1A):c.2105-15C>T

gnomAD frequency: 0.00009  dbSNP: rs190471428
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 3
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000520969 SCV000620628 uncertain significance not provided 2017-09-06 criteria provided, single submitter clinical testing A variant of uncertain significance has been identified in the CACNA1A gene. The c.2108-15 C>T variant has not been published as a pathogenic variant, nor has it been reported as a benign variant to our knowledge. The c.2108-15 C>T variant is observed in 2/6926 (0.03%) alleles from individuals of East Asian background (Lek et al., 2016; 1000 Genomes Consortium et al., 2015; Exome Variant Server). This substitution occurs at a position that is conserved in mammals. In-silico splice prediction models are not informative as to whether this variant will affect gene splicing. Additionally, in the absence of RNA/functional studies, the actual effect of this sequence change in this individual is unknown. Therefore, based on the currently available information, it is unclear whether this variant is a pathogenic variant or a rare benign variant.
Fulgent Genetics, Fulgent Genetics RCV000764183 SCV000895185 uncertain significance Episodic ataxia type 2; Spinocerebellar ataxia type 6; Migraine, familial hemiplegic, 1; Developmental and epileptic encephalopathy, 42 2018-10-31 criteria provided, single submitter clinical testing
Invitae RCV002060279 SCV002387246 likely benign Episodic ataxia type 2; Developmental and epileptic encephalopathy, 42 2024-01-22 criteria provided, single submitter clinical testing

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.