ClinVar Miner

Submissions for variant NM_001127222.2(CACNA1A):c.6780+3G>C

dbSNP: rs1307510001
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000799254 SCV000938908 uncertain significance Episodic ataxia type 2; Developmental and epileptic encephalopathy, 42 2020-07-07 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. Nucleotide substitutions within 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 is not likely to affect RNA splicing, but this prediction has not been confirmed by published transcriptional studies. This variant has not been reported in the literature in individuals with CACNA1A-related conditions. ClinVar contains an entry for this variant (Variation ID: 645212). This variant is not present in population databases (ExAC no frequency). This sequence change falls in intron 46 of the CACNA1A gene. It does not directly change the encoded amino acid sequence of the CACNA1A protein, but it affects a nucleotide within the consensus splice site of the intron.
GeneDx RCV001558354 SCV001780282 uncertain significance not provided 2019-05-21 criteria provided, single submitter clinical testing Reported previously in an individual with benign paroxysmal torticollis and a family history of non-hemiplegic migraine; however, testing of other affected family members was not reported (Humbertclaude et al., 2018); Not observed at a significant frequency in large population cohorts (Lek et al., 2016); In-silico analysis, which includes splice predictors and evolutionary conservation, is inconclusive as to whether the variant alters gene splicing. In the absence of RNA/functional studies, the actual effect of this sequence change is unknown.; This variant is associated with the following publications: (PMID: 29926469)

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