Total submissions: 6
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000375362 | SCV000344752 | uncertain significance | not provided | 2016-08-16 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000818116 | SCV000958713 | uncertain significance | Long QT syndrome | 2023-10-04 | criteria provided, single submitter | clinical testing | This sequence change replaces glutamic acid, which is acidic and polar, with lysine, which is basic and polar, at codon 3570 of the ANK2 protein (p.Glu3570Lys). This variant is present in population databases (rs180843436, gnomAD 0.05%), and has an allele count higher than expected for a pathogenic variant. This missense change has been observed in individual(s) with nonexertional syncope as well as in individuals with neurodevelopmental disorders (PMID: 16253912, 28191889, 30564305). ClinVar contains an entry for this variant (Variation ID: 67595). Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) has been performed at Invitae for this missense variant, however the output from this modeling did not meet the statistical confidence thresholds required to predict the impact of this variant on ANK2 protein function. 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. |
Fulgent Genetics, |
RCV002483106 | SCV002785222 | uncertain significance | Cardiac arrhythmia, ankyrin-B-related | 2021-10-05 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002514292 | SCV003598029 | likely benign | Inborn genetic diseases | 2023-06-26 | criteria provided, single submitter | clinical testing | This alteration is classified as likely benign based on a combination of the following: 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. |
Cardiovascular Biomedical Research Unit, |
RCV000058340 | SCV000089860 | not provided | Congenital long QT syndrome | no assertion provided | literature only | This variant has been reported as associated with Long QT syndrome in the following publications (PMID:16253912). This is a literature report, and does not necessarily reflect the clinical interpretation of the Imperial College / Royal Brompton Cardiovascular Genetics laboratory. | |
Blueprint Genetics | RCV000143869 | SCV000188737 | likely pathogenic | Catecholaminergic polymorphic ventricular tachycardia 1 | 2014-01-02 | no assertion criteria provided | clinical testing |