ClinVar Miner

Submissions for variant NM_001127222.2(CACNA1A):c.2105-2A>G

gnomAD frequency: 0.00001  dbSNP: rs906086634
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Athena Diagnostics RCV000991663 SCV001143315 likely pathogenic not provided 2018-11-23 criteria provided, single submitter clinical testing The variant disrupts a canonical splice site, and is therefore predicted to result in the loss of a functional protein. The best available variant frequency is uninformative because there are too few occurrences in population data.
Labcorp Genetics (formerly Invitae), Labcorp RCV003769308 SCV004589764 likely pathogenic Episodic ataxia type 2; Developmental and epileptic encephalopathy, 42 2023-06-11 criteria provided, single submitter clinical testing 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. ClinVar contains an entry for this variant (Variation ID: 804599). This variant has not been reported in the literature in individuals affected with CACNA1A-related conditions. This variant is present in population databases (no rsID available, gnomAD 0.007%). This sequence change affects an acceptor splice site in intron 16 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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