ClinVar Miner

Submissions for variant NM_001127222.2(CACNA1A):c.6740G>A (p.Arg2247His)

gnomAD frequency: 0.00001  dbSNP: rs1219651327
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
CeGaT Center for Human Genetics Tuebingen RCV000996771 SCV001151686 uncertain significance not provided 2018-07-01 criteria provided, single submitter clinical testing
Invitae RCV001869395 SCV002197414 uncertain significance Episodic ataxia type 2; Developmental and epileptic encephalopathy, 42 2021-01-25 criteria provided, single submitter clinical testing In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). This variant has not been reported in the literature in individuals with CACNA1A-related conditions. ClinVar contains an entry for this variant (Variation ID: 808462). The frequency data for this variant in the population databases is considered unreliable, as metrics indicate insufficient coverage at this position in the ExAC database. This sequence change replaces arginine with histidine at codon 2248 of the CACNA1A protein (p.Arg2248His). The arginine residue is moderately conserved and there is a small physicochemical difference between arginine and histidine.

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.