ClinVar Miner

Submissions for variant NM_001127222.2(CACNA1A):c.1782-5G>A

gnomAD frequency: 0.00001  dbSNP: rs1085307739
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000489597 SCV000577184 uncertain significance not provided 2018-08-27 criteria provided, single submitter clinical testing The c.1785-5G>A variant in the CACNA1A gene has not been reported previously as a pathogenic variant, nor as a benign variant, to our knowledge. Some splice predictor models indicate that this sequence change may either damage the natural splice acceptor site in intron 13 or create a cryptic splice acceptor site, which may cause abnormal gene splicing. However, in the absence of RNA/functional studies, the actual effect of c.1785-5G>A in this individual is unknown. The c.1785-5G>A variant is not observed in large population cohorts (Lek et al., 2016; 1000 Genomes Consortium et al., 2015; Exome Variant Server). We interpret c.1785-5G>A as a variant of uncertain significance.
Labcorp Genetics (formerly Invitae), Labcorp RCV001851314 SCV002295646 uncertain significance Episodic ataxia type 2; Developmental and epileptic encephalopathy, 42 2022-08-09 criteria provided, single submitter clinical testing Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site. ClinVar contains an entry for this variant (Variation ID: 426676). This variant has not been reported in the literature in individuals affected with CACNA1A-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change falls in intron 13 of the CACNA1A gene. It does not directly change the encoded amino acid sequence of the CACNA1A protein. 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.

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