ClinVar Miner

Submissions for variant NM_001205293.3(CACNA1E):c.4615C>T (p.Arg1539Ter)

dbSNP: rs2102718189
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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 RCV003681572 SCV004399196 likely benign not provided 2024-01-29 criteria provided, single submitter clinical testing
GeneDx RCV003681572 SCV005882275 uncertain significance not provided 2024-09-08 criteria provided, single submitter clinical testing Not observed at significant frequency in large population cohorts (gnomAD); Nonsense variant predicted to result in protein truncation or nonsense mediated decay in a gene or region of a gene for which loss of function is not a well-established mechanism of disease; Has not been previously published as pathogenic or benign to our knowledge
PreventionGenetics, part of Exact Sciences RCV004731554 SCV005340484 likely pathogenic CACNA1E-related disorder 2024-05-06 no assertion criteria provided clinical testing The CACNA1E c.4615C>T variant is predicted to result in premature protein termination (p.Arg1539*). To our knowledge, this variant has not been reported in the literature or in a large population database, indicating this variant is rare. Nonsense variants in CACNA1E are expected to be pathogenic. This variant is interpreted as likely pathogenic.

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