ClinVar Miner

Submissions for variant NM_001127222.2(CACNA1A):c.5494G>A (p.Val1832Met)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV003221735 SCV003918715 uncertain significance not provided 2022-10-17 criteria provided, single submitter clinical testing Observed in one patient with history of lacunar stroke in published literature (Tan et al., 2019); Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Also known as c.5494 G>A p.(Val1832Met); This variant is associated with the following publications: (PMID: 31719132)

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