ClinVar Miner

Submissions for variant NM_000722.4(CACNA2D1):c.95+1G>A (rs1554560384)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000551489 SCV000636993 uncertain significance Brugada syndrome 2019-01-31 criteria provided, single submitter clinical testing This sequence change affects a donor splice site in intron 1 of the CACNA2D1 gene. It is expected to disrupt RNA splicing and likely results in an absent or disrupted protein product. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with a CACNA2D1-related disease. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site, but this prediction has not been confirmed by published transcriptional studies. The current clinical and genetic evidence is not sufficient to establish whether loss-of-function variants in CACNA2D1 cause disease. In summary, this variant has uncertain impact on CACNA2D1 function. The available evidence is currently insufficient to determine its role in disease. Therefore, it has been classified as a Variant of Uncertain Significance.

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