ClinVar Miner

Submissions for variant NM_001127222.2(CACNA1A):c.6101G>A (p.Arg2034His)

gnomAD frequency: 0.00002  dbSNP: rs369555957
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001062812 SCV001227635 likely benign Episodic ataxia type 2; Developmental and epileptic encephalopathy, 42 2023-12-22 criteria provided, single submitter clinical testing
GeneDx RCV001552668 SCV001773401 uncertain significance not provided 2021-02-24 criteria provided, single submitter clinical testing Has not been previously published as pathogenic or benign to our knowledge; In silico analysis supports that this missense variant has a deleterious effect on protein structure/function

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