Total submissions: 4
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Gene |
RCV001705545 | SCV000512035 | likely benign | not provided | 2019-01-31 | criteria provided, single submitter | clinical testing | |
| Labcorp Genetics |
RCV000473586 | SCV000545135 | uncertain significance | Long QT syndrome | 2024-04-13 | criteria provided, single submitter | clinical testing | This sequence change affects codon 1085 of the ANK2 mRNA. It is a 'silent' change, meaning that it does not change the encoded amino acid sequence of the ANK2 protein. This variant is present in population databases (rs56173868, gnomAD 0.009%). This variant has not been reported in the literature in individuals affected with ANK2-related conditions. ClinVar contains an entry for this variant (Variation ID: 377475). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. |
| Ambry Genetics | RCV000620641 | SCV000738158 | uncertain significance | Cardiovascular phenotype | 2023-10-23 | criteria provided, single submitter | clinical testing | The c.3255G>A variant (also known as p.A1085A), located in coding exon 29 of the ANK2 gene, results from a G to A substitution at nucleotide position 3255. This nucleotide substitution does not change the alanine at codon 1085. This nucleotide position is poorly conserved in available vertebrate species. In silico splice site analysis predicts that this alteration may result in the creation or strengthening of a novel splice acceptor site. According to data from gnomAD, the frequency for this variant is above the maximum credible frequency for a cardiac disease-causing variant in this gene based on internally established thresholds (Karczewski et al. Nature. 2020 May;581(7809):434-443; Whiffin et al. Genet Med. 2017 10;19:1151-1158). Based on the supporting evidence, the association of this alteration with ANK2-related neurodevelopmental disorder is unknown; however, the association with ANK2-related arrhythmia is unlikely. |
| Women's Health and Genetics/Laboratory Corporation of America, |
RCV000444684 | SCV001363531 | likely benign | not specified | 2019-09-06 | criteria provided, single submitter | clinical testing |