ClinVar Miner

Submissions for variant NM_001127222.2(CACNA1A):c.3368G>A (p.Arg1123Gln)

gnomAD frequency: 0.00008  dbSNP: rs769497214
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000800578 SCV000940304 likely benign Episodic ataxia type 2; Developmental and epileptic encephalopathy, 42 2024-01-31 criteria provided, single submitter clinical testing
GeneDx RCV003332257 SCV004039781 uncertain significance not provided 2023-09-28 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

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