ClinVar Miner

Submissions for variant NM_000719.7(CACNA1C):c.1896G>A (p.Arg632=)

dbSNP: rs2060521243
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001216212 SCV001387996 uncertain significance Long QT syndrome 2019-05-10 criteria provided, single submitter clinical testing 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. Experimental studies have shown that this variant disrupts mRNA splicing (PMID: 24321233). This variant has been observed in an individual affected with Brugada syndrome (PMID: 23575362). This variant is not present in population databases (ExAC no frequency). This sequence change affects codon 632 of the CACNA1C mRNA. It is a 'silent' change, meaning that it does not change the encoded amino acid sequence of the CACNA1C protein.

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