ClinVar Miner

Submissions for variant NM_201596.3(CACNB2):c.*16_*17insC

gnomAD frequency: 0.00556  dbSNP: rs753335762
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000406364 SCV000361825 uncertain significance Brugada syndrome 2016-06-14 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV001193385 SCV001362167 benign not specified 2019-10-15 criteria provided, single submitter clinical testing Variant summary: CACNB2 c.*16_*17insC is located in the untranslated mRNA region downstream of the termination codon. The variant allele was found at a frequency of 0.0036 in 139578 control chromosomes, predominantly at a frequency of 0.0051 within the Non-Finnish European subpopulation in the gnomAD database, including 25 homozygotes. The observed variant frequency within Non-Finnish European control individuals in the gnomAD database (exomes only) is approximately 510 fold of the estimated maximal expected allele frequency for a pathogenic variant in CACNB2 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.*16_*17insC in individuals affected with Arrhythmia and no experimental evidence demonstrating its impact on protein function have been reported. For this variant, co-occurrence with another pathogenic variant has been found in our internal database (PKP2 c.2197_2202delinsG, p.His733fsX8), providing supporting evidence for a benign role. One ClinVar submitter (evaluation after 2014) cite this variant as uncertain significance. Based on the evidence outlined above, the variant was classified as benign.
GeneDx RCV001653475 SCV001868864 benign not provided 2015-06-18 criteria provided, single submitter clinical testing

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