ClinVar Miner

Submissions for variant NM_001127222.2(CACNA1A):c.6181_6184del (p.Asn2061fs)

dbSNP: rs2144524434
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 RCV003773527 SCV004590961 pathogenic Episodic ataxia type 2; Developmental and epileptic encephalopathy, 42 2023-02-28 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Asn2062Leufs*60) in the CACNA1A gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in CACNA1A are known to be pathogenic (PMID: 10371528, 19486177, 25735478, 27250579). This variant is not present in population databases (gnomAD no frequency). 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: 1526277). For these reasons, this variant has been classified as Pathogenic.
Génétique des Maladies du Développement, Hospices Civils de Lyon RCV002052295 SCV002318932 pathogenic Developmental and epileptic encephalopathy, 42 no assertion criteria provided clinical testing
PreventionGenetics, part of Exact Sciences RCV004729060 SCV005335892 pathogenic CACNA1A-related disorder 2024-09-27 no assertion criteria provided clinical testing The CACNA1A c.6181_6184delAACT variant is predicted to result in a frameshift and premature protein termination (p.Asn2061Leufs*60). To our knowledge, this variant has not been reported in the literature or in a large population database, indicating this variant is rare. Loss of function variants in CACNA1A have been shown to be pathogenic (Damaj et al. 2015. PubMed ID: 25735478; Denier et al. 1999. PubMed ID: 10371528). This variant is interpreted as pathogenic.

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.