ClinVar Miner

Submissions for variant NM_001127222.2(CACNA1A):c.3063C>A (p.Asp1021Glu)

gnomAD frequency: 0.00007  dbSNP: rs1038705410
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000529094 SCV000656745 benign Episodic ataxia type 2; Developmental and epileptic encephalopathy, 42 2023-09-22 criteria provided, single submitter clinical testing
GeneDx RCV003327421 SCV004034345 uncertain significance not provided 2023-09-06 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge; This variant is associated with the following publications: (PMID: 25173933)

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