ClinVar Miner

Submissions for variant NM_001127222.2(CACNA1A):c.2104+6C>T

gnomAD frequency: 0.00009  dbSNP: rs372970603
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Athena Diagnostics Inc RCV001576433 SCV000612515 uncertain significance not provided 2023-08-11 criteria provided, single submitter clinical testing Available data are insufficient to determine the clinical significance of the variant at this time. The frequency of this variant in the general population is higher than would generally be expected for pathogenic variants in this gene (http://gnomad.broadinstitute.org). Computational tools yielded inconclusive predictions regarding the effect of this variant on RNA splicing.
Invitae RCV001224697 SCV001396912 uncertain significance Episodic ataxia type 2; Developmental and epileptic encephalopathy, 42 2023-07-07 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. Variants that disrupt the consensus splice site are a relatively common cause of aberrant splicing (PMID: 17576681, 9536098). 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: 446907). This variant has not been reported in the literature in individuals affected with CACNA1A-related conditions. This variant is present in population databases (rs372970603, gnomAD 0.04%). This sequence change falls in intron 16 of the CACNA1A gene. It does not directly change the encoded amino acid sequence of the CACNA1A protein. It affects a nucleotide within the consensus splice site.
GeneDx RCV001576433 SCV001803622 uncertain significance not provided 2022-05-02 criteria provided, single submitter clinical testing In silico analysis supports a deleterious effect on splicing; Has not been previously published as pathogenic or benign to our knowledge

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