ClinVar Miner

Submissions for variant NM_001127222.2(CACNA1A):c.6271G>A (p.Ala2091Thr)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 1
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago RCV003224762 SCV003920644 uncertain significance Episodic ataxia type 2; Spinocerebellar ataxia type 6; Migraine, familial hemiplegic, 1; Developmental and epileptic encephalopathy, 42 2021-03-30 criteria provided, single submitter clinical testing CACNA1A NM_001127221 exon 43 p.Ala2092Thr (c.6274G>A): This variant has not been reported in the literature but is present in 2/110892 European alleles in the Genome Aggregation Database (http://gnomad.broadinstitute.org/rs371172398). This variant amino acid Threonine (Thr) is present in 9 other species including mammals; this suggests that this variant may not impact the protein. Additional computational prediction tools do not suggest an impact. In summary, data on this variant is insufficient for disease classification. Therefore, the clinical significance of this variant is uncertain.

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.