ClinVar Miner

Submissions for variant NM_001127222.2(CACNA1A):c.4052G>C (p.Arg1351Pro)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV004784857 SCV005397053 likely pathogenic not provided 2024-05-06 criteria provided, single submitter clinical testing 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; Has not been previously published as pathogenic or benign to our knowledge; This variant is associated with the following publications: (PMID: 33790770, 33425808)

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