ClinVar Miner

Submissions for variant NM_000719.7(CACNA1C):c.4141-4C>T

gnomAD frequency: 0.00001  dbSNP: rs745757052
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000631763 SCV000752853 likely benign Long QT syndrome 2023-05-22 criteria provided, single submitter clinical testing
Ambry Genetics RCV002331112 SCV002629380 uncertain significance Cardiovascular phenotype 2019-03-26 criteria provided, single submitter clinical testing The c.4141-4C>T intronic variant results from a C to T substitution 4 nucleotides upstream from coding exon 34 in the CACNA1C 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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