ClinVar Miner

Submissions for variant NM_001127222.2(CACNA1A):c.5839+1G>C

dbSNP: rs951196653
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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 RCV001991990 SCV002277521 likely pathogenic Episodic ataxia type 2; Developmental and epileptic encephalopathy, 42 2022-07-12 criteria provided, single submitter clinical testing This variant is not present in population databases (gnomAD no frequency). 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. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. ClinVar contains an entry for this variant (Variation ID: 1496646). This variant has not been reported in the literature in individuals affected with CACNA1A-related conditions. This sequence change affects a donor splice site in intron 39 of the CACNA1A 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 CACNA1A are known to be pathogenic (PMID: 10371528, 19486177, 25735478, 27250579).

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