ClinVar Miner

Submissions for variant NM_000722.4(CACNA2D1):c.3027del (p.Thr1011fs)

dbSNP: rs1554327285
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000638652 SCV000760190 uncertain significance Brugada syndrome 2022-10-24 criteria provided, single submitter clinical testing In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. ClinVar contains an entry for this variant (Variation ID: 532058). This variant has not been reported in the literature in individuals affected with CACNA2D1-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Thr1011Hisfs*55) in the CACNA2D1 gene. While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 81 amino acid(s) of the CACNA2D1 protein.

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