ClinVar Miner

Submissions for variant NM_001127222.2(CACNA1A):c.1669-3T>C

dbSNP: rs750090822
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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 RCV001207380 SCV001378727 uncertain significance Episodic ataxia type 2; Developmental and epileptic encephalopathy, 42 2019-10-01 criteria provided, single submitter clinical testing This variant has not been reported in the literature in individuals with CACNA1A-related conditions. This variant is present in population databases (rs750090822, ExAC 0.008%). This sequence change falls in intron 12 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. 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 may disrupt the consensus splice site, but this prediction has not been confirmed by published transcriptional studies. 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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