ClinVar Miner

Submissions for variant NM_001127222.2(CACNA1A):c.5994A>G (p.Glu1998=)

gnomAD frequency: 0.00006  dbSNP: rs16045
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV002318214 SCV000851484 benign Inborn genetic diseases 2017-02-01 criteria provided, single submitter clinical testing This alteration is classified as benign based on a combination of the following: 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.
Invitae RCV001521122 SCV001730392 benign Episodic ataxia type 2; Developmental and epileptic encephalopathy, 42 2021-08-05 criteria provided, single submitter clinical testing
GeneDx RCV000884790 SCV001859645 benign not provided 2020-08-15 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000884790 SCV004137988 benign not provided 2022-10-01 criteria provided, single submitter clinical testing CACNA1A: BS1, BS2

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