ClinVar Miner

Submissions for variant NM_001127222.2(CACNA1A):c.2788C>T (p.Arg930Trp)

gnomAD frequency: 0.00007  dbSNP: rs367882437
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000658469 SCV000780241 uncertain significance not provided 2020-01-20 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
Invitae RCV000821861 SCV000962633 likely benign Episodic ataxia type 2; Developmental and epileptic encephalopathy, 42 2024-01-02 criteria provided, single submitter clinical testing
Mayo Clinic Laboratories, Mayo Clinic RCV000658469 SCV001713790 uncertain significance not provided 2020-12-24 criteria provided, single submitter clinical testing

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