ClinVar Miner

Submissions for variant NM_006030.4(CACNA2D2):c.1551+17G>T

dbSNP: rs1238265628
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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 RCV001913940 SCV002195399 uncertain significance Early infantile epileptic encephalopathy with suppression bursts 2021-08-03 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. This variant has not been reported in the literature in individuals affected with CACNA2D2-related conditions. This variant is not present in population databases (ExAC no frequency). This sequence change falls in intron 16 of the CACNA2D2 gene. It does not directly change the encoded amino acid sequence of the CACNA2D2 protein.

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