ClinVar Miner

Submissions for variant NM_006030.4(CACNA2D2):c.2234+1G>A

gnomAD frequency: 0.00001  dbSNP: rs749539763
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CeGaT Center for Human Genetics Tuebingen RCV001091091 SCV001246942 likely pathogenic not provided 2020-01-01 criteria provided, single submitter clinical testing
Invitae RCV001378057 SCV001575540 likely pathogenic Early infantile epileptic encephalopathy with suppression bursts 2024-01-16 criteria provided, single submitter clinical testing This sequence change affects a donor splice site in intron 25 of the CACNA2D2 gene. It is expected to disrupt RNA splicing. Variants that disrupt the donor or acceptor splice site typically lead to a loss of protein function (PMID: 16199547), and loss-of-function variants in CACNA2D2 are known to be pathogenic (PMID: 24358150). This variant is present in population databases (rs749539763, gnomAD 0.0009%). This variant has not been reported in the literature in individuals affected with CACNA2D2-related conditions. ClinVar contains an entry for this variant (Variation ID: 871252). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. In summary, the currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as Likely Pathogenic.

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