Submissions for variant NM_001127222.2(CACNA1A):c.6647_6658del (p.His2216_His2219del)

dbSNP: rs770368215

Total submissions: 4

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV000996773	SCV000570283	likely benign	not provided	2021-05-07	criteria provided, single submitter	clinical testing
Invitae	RCV000527151	SCV000656796	uncertain significance	Episodic ataxia type 2; Developmental and epileptic encephalopathy, 42	2017-09-11	criteria provided, single submitter	clinical testing	In summary, this variant has uncertain impact on CACNA1A function. The available evidence is currently insufficient to determine its role in disease. Therefore, it has been classified as a Variant of Uncertain Significance. Experimental studies and prediction algorithms are not available for this variant, and the functional significance of the deleted amino acids is currently unknown. This variant has not been reported in the literature in individuals with a CACNA1A-related disease. ClinVar contains an entry for this variant (Variation ID: 421166). While this variant is present in population databases (rs770368215), the frequency information is unreliable, as metrics indicate poor data quality at this position in the ExAC database. This variant, c.6650_6661delACCACCACCATC, results in the deletion of 4 amino acid(s) of the CACNA1A protein (p.His2217_His2220del), but otherwise preserves the integrity of the reading frame.
CeGaT Center for Human Genetics Tuebingen	RCV000996773	SCV001151689	likely benign	not provided	2017-01-01	criteria provided, single submitter	clinical testing
Genetic Services Laboratory, University of Chicago	RCV001814984	SCV002062029	likely benign	not specified	2019-12-11	criteria provided, single submitter	clinical testing