Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000443537 | SCV000536497 | uncertain significance | not provided | 2019-01-08 | criteria provided, single submitter | clinical testing | The R2466C variant of uncertain significance in the ANK2 gene has not been published as pathogenic or been reported as benign to our knowledge. This variant is observed in 12/245416 (0.005%) alleles from individuals of multiple ethnic backgrounds in large population cohorts (Lek et al., 2016). In-silico analyses, including protein predictors and evolutionary conservation, support that this variant does not alter protein structure/function. However, the R2466C variant is a non-conservative amino acid substitution, which is likely to impact secondary protein structure as these residues differ in polarity, charge, size and/or other properties. Therefore, based on the currently available information, it is unclear whether this variant is pathogenic or rare benign. |
Centre for Mendelian Genomics, |
RCV001196023 | SCV001366452 | uncertain significance | Cardiac arrhythmia, ankyrin-B-related | 2019-02-15 | criteria provided, single submitter | clinical testing | This variant was classified as: Uncertain significance. The available evidence on this variant's pathogenicity is insufficient or conflicting. The following ACMG criteria were applied in classifying this variant: BS1. |
Invitae | RCV001203990 | SCV001375175 | likely benign | Long QT syndrome | 2024-01-15 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002379398 | SCV002673599 | likely benign | Cardiovascular phenotype | 2020-03-26 | criteria provided, single submitter | clinical testing | This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity. |
Fulgent Genetics, |
RCV001196023 | SCV002785201 | uncertain significance | Cardiac arrhythmia, ankyrin-B-related | 2021-08-04 | criteria provided, single submitter | clinical testing |