ClinVar Miner

Submissions for variant NM_001127222.2(CACNA1A):c.605C>T (p.Pro202Leu)

dbSNP: rs2144559262
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001575419 SCV001802409 likely pathogenic not provided 2020-10-09 criteria provided, single submitter clinical testing Not observed in large population cohorts (Lek et al., 2016); 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
Mendelics RCV002246439 SCV002518626 pathogenic Episodic ataxia type 2 2022-05-04 criteria provided, single submitter clinical testing

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