ClinVar Miner

Submissions for variant NM_001127222.2(CACNA1A):c.5941-2A>G

dbSNP: rs1555731992
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000624820 SCV000742889 likely pathogenic Inborn genetic diseases 2023-10-16 criteria provided, single submitter clinical testing The c.5944-2A>G intronic variant results from an A to G substitution two nucleotides before coding exon 41 of the CACNA1A gene. Alterations that disrupt the canonical splice site are expected to result in aberrant splicing. The resulting transcript is predicted to be in-frame and is not expected to trigger nonsense-mediated mRNAdecay; however, direct evidence is unavailable. The exact functional effect of the altered amino acid sequence is unknown._x000D_ _x000D_ _x000D_ _x000D_ ; however, it is unlikely to be causative of CACNA1A-related spinocerebellar ataxia. This variant was not reported in population-based cohorts in the Genome Aggregation Database (gnomAD). This nucleotide position is highly conserved in available vertebrate species. In silico splice site analysis predicts that this alteration will weaken the native splice acceptor site and will result in the creation or strengthening of a novel splice acceptor site. Based on the available evidence, this alteration is classified as likely pathogenic.

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