ClinVar Miner

Submissions for variant NM_001127222.2(CACNA1A):c.6304-3C>T

gnomAD frequency: 0.00001  dbSNP: rs1354563230
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein RCV002253159 SCV002523379 uncertain significance See cases 2019-12-17 criteria provided, single submitter clinical testing ACMG classification criteria: PM2, BP4
Labcorp Genetics (formerly Invitae), Labcorp RCV003774746 SCV004569982 uncertain significance Episodic ataxia type 2; Developmental and epileptic encephalopathy, 42 2023-10-22 criteria provided, single submitter clinical testing This sequence change falls in intron 43 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. The frequency data for this variant in the population databases is considered unreliable, as metrics indicate poor data quality at this position in the gnomAD database. This variant has not been reported in the literature in individuals affected with CACNA1A-related conditions. ClinVar contains an entry for this variant (Variation ID: 1690741). 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 is not likely to affect RNA splicing. 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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