ClinVar Miner

Submissions for variant NM_201596.3(CACNB2):c.120+360G>C (rs1064795457)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000486766 SCV000571283 uncertain significance not provided 2016-08-08 criteria provided, single submitter clinical testing The c.36+1 G>C variant of uncertain significance in an alternate transcript of the CACNB2 gene has not been published as a pathogenic or benign variant to our knowledge. This variant was not observed in approximately 6,000 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project (average read depth 8X). Although the c.36+1 G>C variant destroys the canonical splice donor site for intron 1 in this alternate transcript of the CACNB2 gene, it is located deep within the intron of the default transcript and, in the absence of functional mRNA studies, the physiological consequence of this variant cannot be precisely determined. Furthermore, no other variants in this alternate transcript of CACNB2 have been reported in theHuman Gene Mutation Database in association with Brugada syndrome (Stenson et al., 2014). Therefore, based on the currently available information, it is unclear whether this variant ispathogenic or rare benign.
GenomeConnect, ClinGen RCV000509348 SCV000607257 not provided Brugada syndrome no assertion provided phenotyping only GenomeConnect assertions are reported exactly as they appear on the patient-provided report from the testing laboratory. GenomeConnect staff make no attempt to reinterpret the clinical significance of the variant.

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