ClinVar Miner

Submissions for variant NM_001127222.2(CACNA1A):c.5134-2A>C

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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 RCV002344237 SCV002646614 likely pathogenic Inborn genetic diseases 2018-11-29 criteria provided, single submitter clinical testing The c.5137-2A>C intronic variant results from an A to C substitution two nucleotides upstream from coding exon 34 in the CACNA1A gene. This nucleotide position is highly conserved in available vertebrate species. Using the BDGP and ESEfinder splice site prediction tools, this alteration is predicted to abolish the native splice acceptor site; however, direct evidence is unavailable. Based on the majority of available evidence to date, this variant is likely to be pathogenic.

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