ClinVar Miner

Submissions for variant NM_001127222.2(CACNA1A):c.1643C>G (p.Ser548Cys)

gnomAD frequency: 0.00001  dbSNP: rs2058057381
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001765221 SCV001991929 uncertain significance not provided 2019-04-16 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 a deleterious effect; Has not been previously published as pathogenic or benign to our knowledge

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