Total submissions: 2
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Labcorp Genetics |
RCV004577361 | SCV002150942 | uncertain significance | Long QT syndrome 1 | 2021-11-27 | criteria provided, single submitter | clinical testing | 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 (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be disruptive. This variant has not been reported in the literature in individuals affected with CALM3-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change replaces glycine, which is neutral and non-polar, with aspartic acid, which is acidic and polar, at codon 135 of the CALM3 protein (p.Gly135Asp). |
| Ambry Genetics | RCV004996065 | SCV005551670 | uncertain significance | Cardiovascular phenotype | 2024-11-27 | criteria provided, single submitter | clinical testing | The p.G135D variant (also known as c.404G>A), located in coding exon 5 of the CALM3 gene, results from a G to A substitution at nucleotide position 404. The glycine at codon 135 is replaced by aspartic acid, an amino acid with similar properties. This amino acid position is highly conserved in available vertebrate species. In addition, this alteration is predicted to be deleterious by in silico analysis. Based on the available evidence, the clinical significance of this variant remains unclear. |