ClinVar Miner

Submissions for variant NM_001127221.1(CACNA1A):c.1360G>A (p.Ala454Thr) (rs41276886)

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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000717190 SCV000848039 benign History of neurodevelopmental disorder 2016-09-13 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: General population or subpopulation frequency is too high to be a pathogenic mutation based on disease/syndrome prevalence and penetrance
Athena Diagnostics Inc RCV000059290 SCV000841240 benign not provided 2017-09-18 criteria provided, single submitter clinical testing
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics RCV000059290 SCV000511112 likely benign not provided 2016-09-26 criteria provided, single submitter clinical testing Converted during submission to Likely benign.
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000174037 SCV000225270 benign not specified 2014-10-31 criteria provided, single submitter clinical testing
GeneDx RCV000174037 SCV000512439 benign not specified 2016-09-16 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.
Invitae RCV000558430 SCV000656710 benign Episodic ataxia type 2; Epileptic encephalopathy, early infantile, 42 2017-11-15 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000174037 SCV000538548 benign not specified 2016-10-31 criteria provided, single submitter clinical testing Variant identified in a genome or exome case(s) and assessed due to predicted null impact of the variant or pathogenic assertions in the literature or databases. Disclaimer: This variant has not undergone full assessment. The following are preliminary notes: This variant is present in ExAC at a MaxMAF of 2% in Finnish chromosomes. It is classified in ClinVar with 1 star as Benign by Emory and Likely Benign by UniProtKB/Swiss-Prot. It was reported in one patient with alternating hemiplagia of childhood who also had a de novo variant in ATP1A3, CACNA1A variant was also seen in her unaffected mother. It was seen in one family with Familial hemiplegic migraine (segregated in 1 relative) and was associated with the absence of sensorimotor symptoms in a migraine with aura. In the same paper, authors show via in vitro studies that this variant affected protein function. Was also seen in one proband with early-onset progressive ataxia and her affected sister. If this variant plays any role in disease, its frequnecy is too high to be a Mendelian variant.
UniProtKB/Swiss-Prot RCV000059290 SCV000090839 likely benign not provided no assertion criteria provided not provided Converted during submission to Likely benign.

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