ClinVar Miner

Submissions for variant NM_001127222.2(CACNA1A):c.3416C>T (p.Thr1139Ile)

dbSNP: rs2144887603
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001763881 SCV002000087 uncertain significance not provided 2020-10-30 criteria provided, single submitter clinical testing Not observed in large population cohorts (Lek et al., 2016); In silico analysis supports that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge

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