Total submissions: 2
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Labcorp Genetics |
RCV000801584 | SCV000941366 | uncertain significance | ANKRD1-related dilated cardiomyopathy | 2022-01-15 | criteria provided, single submitter | clinical testing | ClinVar contains an entry for this variant (Variation ID: 647150). 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. 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: "Tolerated"; PolyPhen-2: "Possibly Damaging"; Align-GVGD: "Class C0"). This variant has not been reported in the literature in individuals affected with ANKRD1-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change replaces methionine, which is neutral and non-polar, with threonine, which is neutral and polar, at codon 184 of the ANKRD1 protein (p.Met184Thr). |
| Ambry Genetics | RCV003307463 | SCV003999413 | uncertain significance | Cardiovascular phenotype | 2023-04-24 | criteria provided, single submitter | clinical testing | The p.M184T variant (also known as c.551T>C), located in coding exon 5 of the ANKRD1 gene, results from a T to C substitution at nucleotide position 551. The methionine at codon 184 is replaced by threonine, an amino acid with similar properties. This amino acid position is well conserved in available vertebrate species. In addition, the in silico prediction for this alteration is inconclusive. The evidence for this gene-disease relationship is limited; therefore, the clinical significance of this alteration is unclear. |