ClinVar Miner

Submissions for variant NM_001127222.2(CACNA1A):c.1885C>A (p.Leu629Ile)

dbSNP: rs2145003975
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001761108 SCV001998676 uncertain significance not provided 2020-01-13 criteria provided, single submitter clinical testing Not observed in large population cohorts (Lek et al., 2016); In silico analysis, which includes protein predictors and evolutionary conservation, supports that this variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge

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