Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000422202 | SCV000514447 | benign | not specified | 2016-07-21 | criteria provided, single submitter | clinical testing | This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease. |
Women's Health and Genetics/Laboratory Corporation of America, |
RCV000422202 | SCV001432119 | benign | not specified | 2020-08-24 | criteria provided, single submitter | clinical testing | Variant summary: RYR2 c.7824+20G>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. 4/4 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 0.00023 in 162556 control chromosomes. The observed variant frequency is approximately 6.8-fold the estimated maximal expected allele frequency for a pathogenic variant in RYR2 causing Catecholaminergic Polymorphic Ventricular Tachycardia phenotype (3.4e-05), strongly suggesting that the variant is benign. To our knowledge, no occurrence of c.7824+20G>A in individuals affected with Catecholaminergic Polymorphic Ventricular Tachycardia and no experimental evidence demonstrating its impact on protein function have been reported. One clinical diagnostic laboratory has submitted clinical-significance assessments for this variant to ClinVar after 2014 without evidence for independent evaluation, citing the variant as benign. Based on the evidence outlined above, the variant was classified as benign. |
Invitae | RCV002521536 | SCV002447730 | benign | Catecholaminergic polymorphic ventricular tachycardia 1 | 2024-01-06 | criteria provided, single submitter | clinical testing | |
Clinical Genetics, |
RCV000422202 | SCV001925576 | benign | not specified | no assertion criteria provided | clinical testing | ||
Diagnostic Laboratory, |
RCV001726162 | SCV001962920 | likely benign | not provided | no assertion criteria provided | clinical testing |