ClinVar Miner

Submissions for variant NM_001127222.2(CACNA1A):c.3797T>C (p.Val1266Ala)

dbSNP: rs2144871393
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001800145 SCV002044274 uncertain significance not provided 2021-06-25 criteria provided, single submitter clinical testing Has not been previously published as pathogenic or benign to our knowledge; Not observed at significant frequency in large population cohorts (Lek et al., 2016); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; This variant is associated with the following publications: (PMID: 27535533)

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