Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Labcorp Genetics |
RCV000535901 | SCV000627649 | uncertain significance | Long QT syndrome | 2023-02-14 | criteria provided, single submitter | clinical testing | This sequence change replaces proline, which is neutral and non-polar, with leucine, which is neutral and non-polar, at codon 1501 of the ANK2 protein (p.Pro1501Leu). This variant is present in population databases (rs201071074, gnomAD 0.004%). 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: 457038). Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). 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. |
Phosphorus, |
RCV000578058 | SCV000679839 | uncertain significance | Cardiac arrhythmia, ankyrin-B-related | 2017-08-01 | criteria provided, single submitter | clinical testing | |
Centogene AG - |
RCV000578058 | SCV002059332 | uncertain significance | Cardiac arrhythmia, ankyrin-B-related | 2019-05-08 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002330829 | SCV002637598 | uncertain significance | Cardiovascular phenotype | 2022-04-09 | criteria provided, single submitter | clinical testing | The c.4502C>T (p.P1501L) alteration is located in exon 38 (coding exon 38) of the ANK2 gene. This alteration results from a C to T substitution at nucleotide position 4502, causing the proline (P) at amino acid position 1501 to be replaced by a leucine (L). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |