ClinVar Miner

Submissions for variant NM_001127222.2(CACNA1A):c.1676T>C (p.Ile559Thr)

gnomAD frequency: 0.00001  dbSNP: rs767207007
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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 RCV001218393 SCV001390274 likely benign Episodic ataxia type 2; Developmental and epileptic encephalopathy, 42 2024-10-24 criteria provided, single submitter clinical testing
GeneDx RCV004822325 SCV005443318 uncertain significance not provided 2024-07-02 criteria provided, single submitter clinical testing 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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