ClinVar Miner

Submissions for variant NM_001127222.2(CACNA1A):c.6630CCA[8] (p.His2219del)

dbSNP: rs759331923
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 6
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics RCV000437029 SCV000510943 likely benign not provided 2016-09-21 criteria provided, single submitter clinical testing Converted during submission to Likely benign.
GeneDx RCV000484910 SCV000568082 benign not specified 2016-06-21 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Labcorp Genetics (formerly Invitae), Labcorp RCV001080102 SCV000656798 likely benign Episodic ataxia type 2; Developmental and epileptic encephalopathy, 42 2023-11-13 criteria provided, single submitter clinical testing
Ambry Genetics RCV002314124 SCV000849133 benign Inborn genetic diseases 2017-02-24 criteria provided, single submitter clinical testing This alteration is classified as benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
CeGaT Center for Human Genetics Tuebingen RCV000437029 SCV004137977 likely benign not provided 2022-11-01 criteria provided, single submitter clinical testing CACNA1A: BS1
PreventionGenetics, part of Exact Sciences RCV003985328 SCV004732001 likely benign CACNA1A-related disorder 2020-03-23 no assertion criteria provided clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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.