ClinVar Miner

Submissions for variant NM_000719.7(CACNA1C):c.3156+17G>A

gnomAD frequency: 0.00052  dbSNP: rs201709484
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV001194036 SCV001363273 benign not specified 2019-08-12 criteria provided, single submitter clinical testing Variant summary: CACNA1C c.3156+17G>A alters a non-conserved nucleotide located close to a canonical splice site and therefore could affect mRNA splicing, leading to a significantly altered protein sequence. 5/5 computational tools predict no significant impact on normal splicing. However, these predictions have yet to be confirmed by functional studies. The variant allele was found at a frequency of 0.00039 in 251194 control chromosomes, predominantly at a frequency of 0.00056 within the Non-Finnish European subpopulation in the gnomAD database. The observed variant frequency within Non-Finnish European control individuals in the gnomAD database is approximately 56-folds higher than the estimated maximal expected allele frequency for a pathogenic variant in CACNA1C causing Arrhythmia phenotype (1e-05), strongly suggesting that the variant is a benign polymorphism found primarily in populations of Non-Finnish European origin. To our knowledge, no occurrence of c.3156+17G>A in individuals affected with Arrhythmia and no experimental evidence demonstrating its impact on protein function have been reported. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar after 2014. Based on the evidence outlined above, the variant was classified as benign.
GeneDx RCV001712885 SCV001945167 benign not provided 2015-03-03 criteria provided, single submitter clinical testing
Invitae RCV002069242 SCV002410866 benign Long QT syndrome 2024-01-22 criteria provided, single submitter clinical testing
Clinical Genetics, Academic Medical Center RCV001194036 SCV001917442 benign not specified no assertion criteria provided clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ RCV001712885 SCV001953811 likely benign not provided no assertion criteria provided clinical testing

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