ClinVar Miner

Submissions for variant NM_000722.4(CACNA2D1):c.2238A>G (p.Thr746=)

gnomAD frequency: 0.00001  dbSNP: rs192741898
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000473414 SCV000552083 uncertain significance Brugada syndrome 2019-06-20 criteria provided, single submitter clinical testing In summary, this is a rare silent change with uncertain impact on splicing. It has been classified as a Variant of Uncertain Significance. Algorithms developed to predict the effect of nucleotide changes on RNA splicing suggest that this variant may alter RNA splicing, but this prediction has not been confirmed by published transcriptional studies. This variant is present in population databases (rs192741898, ExAC 0.02%) but has not been reported in the literature in individuals with a CACNA2D1-related disease. This sequence change affects codon 746 of the CACNA2D1 mRNA. It is a 'silent' change, meaning that it does not change the encoded amino acid sequence of the CACNA2D1 protein.

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