ClinVar Miner

Submissions for variant NM_001127222.2(CACNA1A):c.4389-5T>C

dbSNP: rs896214992
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001405152 SCV001607069 likely benign Episodic ataxia type 2; Developmental and epileptic encephalopathy, 42 2023-09-11 criteria provided, single submitter clinical testing
Ambry Genetics RCV002332904 SCV002628770 uncertain significance Inborn genetic diseases 2018-10-21 criteria provided, single submitter clinical testing The c.4392-5T>C intronic variant results from a T to C substitution 5 nucleotides upstream from coding exon 28 in the CACNA1A gene. This nucleotide position is poorly conserved in available vertebrate species. Using the BDGP and ESEfinder splice site prediction tools, this alteration is not predicted to have any significant effect on this splice acceptor site; however, direct evidence is unavailable. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

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