ClinVar Miner

Submissions for variant NM_001127221.2(CACNA1A):c.5578T>C (p.Ser1860Pro)

gnomAD frequency: 0.00004  dbSNP: rs374688464
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001752610 SCV001997511 uncertain significance not provided 2019-12-23 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
Labcorp Genetics (formerly Invitae), Labcorp RCV002539145 SCV003511855 likely benign Episodic ataxia type 2; Developmental and epileptic encephalopathy, 42 2023-11-20 criteria provided, single submitter clinical testing

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