Total submissions: 3
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Labcorp Genetics |
RCV005196601 | SCV005840877 | uncertain significance | not provided | 2024-06-19 | criteria provided, single submitter | clinical testing | This sequence change replaces threonine, which is neutral and polar, with isoleucine, which is neutral and non-polar, at codon 283 of the ALPK3 protein (p.Thr283Ile). This variant is present in population databases (rs200384082, gnomAD 0.0009%). This variant has not been reported in the literature in individuals affected with ALPK3-related conditions. An algorithm developed to predict the effect of missense changes on protein structure and function (PolyPhen-2) suggests that this variant is likely to be disruptive. 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 | RCV005338604 | SCV006009725 | uncertain significance | Cardiovascular phenotype | 2025-01-31 | criteria provided, single submitter | clinical testing | The p.T283I variant (also known as c.848C>T), located in coding exon 3 of the ALPK3 gene, results from a C to T substitution at nucleotide position 848. The threonine at codon 283 is replaced by isoleucine, an amino acid with similar properties. This amino acid position is conserved. In addition, this alteration is predicted to be tolerated by in silico analysis. Based on the available evidence, the clinical significance of this variant remains unclear. |
| Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease, |
RCV005406158 | SCV006067366 | likely benign | not specified | 2025-04-09 | criteria provided, single submitter | clinical testing | BS1;BP4 |