ClinVar Miner

Submissions for variant NM_001127222.2(CACNA1A):c.4298G>A (p.Arg1433Gln)

dbSNP: rs2144758462
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001548020 SCV001767865 uncertain significance not provided 2023-08-30 criteria provided, single submitter clinical testing Reported in a patient with mild intellectual disability, cerebellar ataxia, and epilepsy in published literature; however, the variant was also present in the patient's asymptomatic parent (Hommersom et al., 2022); 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; This variant is associated with the following publications: (PMID: Arias_2021, 35595874, 34806130)
Athena Diagnostics RCV001548020 SCV001880126 uncertain significance not provided 2021-04-20 criteria provided, single submitter clinical testing
Institute of Human Genetics, University of Leipzig Medical Center RCV002226553 SCV002505616 uncertain significance Developmental and epileptic encephalopathy, 42 2022-11-29 criteria provided, single submitter clinical testing _x000D_ Criteria applied: PM2_SUP, PM1, PP3, PP4

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