Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Illumina Laboratory Services, |
RCV000406364 | SCV000361825 | uncertain significance | Brugada syndrome | 2016-06-14 | criteria provided, single submitter | clinical testing | |
Women's Health and Genetics/Laboratory Corporation of America, |
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. |
Gene |
RCV001653475 | SCV001868864 | benign | not provided | 2015-06-18 | criteria provided, single submitter | clinical testing |