ClinVar Miner

Submissions for variant NM_001127222.2(CACNA1A):c.5133+3G>C

dbSNP: rs1320790447
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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 RCV001935742 SCV002190470 uncertain significance Episodic ataxia type 2; Developmental and epileptic encephalopathy, 42 2021-10-08 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. This variant has been observed in individual(s) with clinical features of CACNA1A-related conditions (Invitae). This variant is not present in population databases (ExAC no frequency). This sequence change falls in intron 33 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 of the intron.

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