ClinVar Miner

Submissions for variant NM_001127222.2(CACNA1A):c.2938C>T (p.Arg980Cys)

gnomAD frequency: 0.00001  dbSNP: rs778978325
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000689874 SCV000817543 likely benign Episodic ataxia type 2; Developmental and epileptic encephalopathy, 42 2023-11-27 criteria provided, single submitter clinical testing
GeneDx RCV003238802 SCV003936709 uncertain significance not provided 2022-12-30 criteria provided, single submitter clinical testing Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Has not been previously published as pathogenic or benign to our knowledge

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