ClinVar Miner

Submissions for variant NM_001127221.1(CACNA1A):c.5559_5560del (p.Tyr1853_Ser1854delinsTer) (rs1568440440)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Center for Human Genetics and Laboratory Diagnostics, Dr. Klein, Dr. Rost and Colleagues RCV000678985 SCV000805201 pathogenic Cerebellar ataxia 2018-05-11 criteria provided, single submitter clinical testing
Invitae RCV000703765 SCV000832681 pathogenic Episodic ataxia type 2; Epileptic encephalopathy, early infantile, 42 2018-05-19 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Tyr1853*) in the CACNA1A gene. It is expected to result in an absent or disrupted protein product. This variant is not present in population databases (ExAC no frequency). This variant has been reported in an individual affected with episodic ataxia 2 (PMID: 27066515). Loss-of-function variants in CACNA1A are known to be pathogenic (PMID: 10371528, 19486177, 25735478, 27250579). For these reasons, this variant has been classified as Pathogenic.

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