ClinVar Miner

Submissions for variant NM_001127222.2(CACNA1A):c.815G>A (p.Cys272Tyr)

dbSNP: rs771682941
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 2
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001942154 SCV002236310 pathogenic Episodic ataxia type 2; Developmental and epileptic encephalopathy, 42 2023-05-22 criteria provided, single submitter clinical testing This variant is not present in population databases (gnomAD no frequency). For these reasons, this variant has been classified as Pathogenic. Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is expected to disrupt CACNA1A protein function. ClinVar contains an entry for this variant (Variation ID: 1454996). This missense change has been observed in individual(s) with CACNA1A-related conditions (PMID: 25596066). In at least one individual the variant was observed to be de novo. This sequence change replaces cysteine, which is neutral and slightly polar, with tyrosine, which is neutral and polar, at codon 272 of the CACNA1A protein (p.Cys272Tyr).
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center RCV002291304 SCV002583725 likely pathogenic CACNA1A-related disorder 2022-09-28 criteria provided, single submitter clinical testing PM6 PM2 PS4_moderate PP2 PP3

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.