ClinVar Miner

Submissions for variant NM_001127222.2(CACNA1A):c.6469G>A (p.Asp2157Asn)

gnomAD frequency: 0.00001  dbSNP: rs1042634748
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
Labcorp Genetics (formerly Invitae), Labcorp RCV001965187 SCV002207790 likely benign Episodic ataxia type 2; Developmental and epileptic encephalopathy, 42 2022-10-12 criteria provided, single submitter clinical testing
GeneDx RCV002285518 SCV002575815 uncertain significance not provided 2023-05-18 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
Athena Diagnostics RCV002285518 SCV004229467 uncertain significance not provided 2023-06-08 criteria provided, single submitter clinical testing Available data are insufficient to determine the clinical significance of the variant at this time. The frequency of this variant in the general population is uninformative in assessment of its pathogenicity. (http://gnomad.broadinstitute.org) Computational tools disagree on the variant's effect on normal protein function.

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.