ClinVar Miner

Submissions for variant NM_001127221.1(CACNA1A):c.2137G>A (p.Ala713Thr) (rs886037945)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 5
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000255263 SCV000321493 pathogenic not provided 2019-01-08 criteria provided, single submitter clinical testing The A713T pathogenic variant in the CACNA1A gene has been reported as a de novo variant with confirmed parentage in multiple individuals with CACNA1A-related disorders previously tested at GeneDx and in the published literature (Allen et al., 2013; Balck et al., 2017). The A713T variant is not observed in large population cohorts (Lek et al., 2016). This variant is a non-conservative amino acid substitution, which is likely to impact secondary protein structure as these residues differ in polarity, charge, size and/or other properties. In-silico analyses, including protein predictors and evolutionary conservation, support a deleterious effect. In addition, missense variants in nearby residues have been reported in the Human Gene Mutation Database in association with CACNA1A-related disorders (Stenson et al., 2014). Therefore, we interpret A713T as a pathogenic variant, and its presence is consistent with a diagnosis of a CACNA1A-related disorder in this individual.
Ambry Genetics RCV000623106 SCV000740986 likely pathogenic Inborn genetic diseases 2015-08-05 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: LIKELY POSITIVE: Relevant Alteration(s) Detected
Fulgent Genetics,Fulgent Genetics RCV000763034 SCV000893509 pathogenic Episodic ataxia type 2; Spinocerebellar ataxia 6; Familial hemiplegic migraine type 1; Epileptic encephalopathy, early infantile, 42 2018-10-31 criteria provided, single submitter clinical testing
Génétique des Maladies du Développement, Hospices Civils de Lyon RCV000240888 SCV001164206 pathogenic Epileptic encephalopathy, early infantile, 42 2018-07-23 criteria provided, single submitter clinical testing
OMIM RCV000240888 SCV000299358 pathogenic Epileptic encephalopathy, early infantile, 42 2013-09-12 no assertion criteria provided literature only

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.