ClinVar Miner

Submissions for variant NM_201596.3(CACNB2):c.456+24_456+25insTTTTTTTTTCTTTTTCTTTTTTTTTTTTTTTTTTTTTTTTGAGACAGAGTCTTGCTGTGTCACCCAGGCTGGAGTGCAGTNNNNNNNNNNAGGATGGTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCAATAATTTCATTTTCT

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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 RCV001369862 SCV001566315 uncertain significance Brugada syndrome 4 2020-09-17 criteria provided, single submitter clinical testing This variant has not been reported in the literature in individuals with CACNB2-related conditions. This variant is not present in population databases (ExAC no frequency). This sequence change falls in intron 3 of the CACNB2 gene. It does not directly change the encoded amino acid sequence of the CACNB2 protein. Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. 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. Retrotransposon insertions including LINE1 (L1), Alu, and SVA (SINE-VNTR-Alu) have been reported to disrupt protein function (PMID: 19763152, 20307669, 22406018). However the effect of this particular variant is unknown.

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