ClinVar Miner

Submissions for variant NM_006030.4(CACNA2D2):c.1479+7C>T

gnomAD frequency: 0.00001  dbSNP: rs764916520
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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 RCV000692028 SCV000819835 uncertain significance Early infantile epileptic encephalopathy with suppression bursts 2019-10-24 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. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site, but this prediction has not been confirmed by published transcriptional studies. This variant has not been reported in the literature in individuals with CACNA2D2-related disease. This variant is present in population databases (rs764916520, ExAC 0.006%). This sequence change falls in intron 15 of the CACNA2D2 gene. It does not directly change the encoded amino acid sequence of the CACNA2D2 protein.

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