ClinVar Miner

Submissions for variant NM_001127222.2(CACNA1A):c.3106G>A (p.Gly1036Arg)

gnomAD frequency: 0.00004  dbSNP: rs762343454
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001210979 SCV001382497 likely benign Episodic ataxia type 2; Developmental and epileptic encephalopathy, 42 2023-12-07 criteria provided, single submitter clinical testing
GeneDx RCV001760183 SCV001999308 uncertain significance not provided 2019-10-22 criteria provided, single submitter clinical testing In silico analysis, which includes protein predictors and evolutionary conservation, supports a deleterious effect; Has not been previously published as pathogenic or benign to our knowledge

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