ClinVar Miner

Submissions for variant NM_001205293.3(CACNA1E):c.4741G>T (p.Ala1581Ser)

dbSNP: rs1658762654
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002716011 SCV003005347 likely benign not provided 2024-04-05 criteria provided, single submitter clinical testing
GeneDx RCV002716011 SCV003805120 uncertain significance not provided 2022-08-15 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
Genome-Nilou Lab RCV003458879 SCV004179665 uncertain significance Developmental and epileptic encephalopathy, 69 2023-04-11 criteria provided, single submitter clinical testing

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