ClinVar Miner

Submissions for variant NM_001205293.3(CACNA1E):c.3266G>A (p.Ser1089Asn)

dbSNP: rs1656022956
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV002275817 SCV002562525 uncertain significance not provided 2022-02-11 criteria provided, single submitter clinical testing Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
Clinical Genomics Laboratory, Washington University in St. Louis RCV004555899 SCV005045053 uncertain significance Developmental and epileptic encephalopathy, 69 2023-11-08 criteria provided, single submitter clinical testing The CACNA1E c.3266G>A (p.Ser1089Asn) variant, to our knowledge, has not been reported in the medical literature but has been reported in the ClinVar database as a germline variant of uncertain significance by one submitter. This variant is absent from the general population (gnomAD v.2.1.1), indicating it is not a common variant. Computational predictors suggest that the variant does not impact CACNA1E function. Due to limited information, and based on ACMG/AMP guidelines for variant interpretation (Richards S et al., PMID: 25741868), the clinical significance of this variant is uncertain at this time.

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