ClinVar Miner

Submissions for variant NM_006030.4(CACNA2D2):c.2740_2750del (p.Asn914fs)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV005131218 SCV005755928 pathogenic Early infantile epileptic encephalopathy with suppression bursts 2024-06-03 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Asn914Glyfs*5) in the CACNA2D2 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in CACNA2D2 are known to be pathogenic (PMID: 24358150). This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with CACNA2D2-related conditions. For these reasons, this variant has been classified as Pathogenic.

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