ClinVar Miner

Submissions for variant NM_000719.7(CACNA1C):c.3946-45C>G (rs201551454)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000170805 SCV000223360 uncertain significance not provided 2016-08-24 criteria provided, single submitter clinical testing The variant of uncertain significance P1323A identified in an alternative transcript of the CACNA1C gene has not been published as a pathogenic or benign variant to our knowledge. This variant was not observed in approximately 6,400 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, indicating it is not a common benign variant in these populations. The P1323A variant has been identified independently and in conjunction with additional cardiogenetic variants in individuals referred for arrhythmia genetic testing at GeneDx; however, thus far, segregation data is limited or absent for these individuals due to the lack of clinical information provided and/or insufficient participation by informative family members. This substitution occurs deep within intron 31 of the default transcript at a position that is not conserved. Consequently, in silico analysis predicts this variant likely does not alter the protein structure/function. Furthermore, it is unknown whether other variants have been previously reported in this alternative transcript. Therefore, based on the currently available information, it is unclear whether this variant is pathogenic or rare benign.
Stanford Center for Inherited Cardiovascular Disease, Stanford University RCV000170805 SCV000925038 uncertain significance not provided 2016-04-01 no assertion criteria provided provider interpretation

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