Total submissions: 3
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Ambry Genetics | RCV002338174 | SCV002642267 | uncertain significance | Cardiovascular phenotype | 2024-03-25 | criteria provided, single submitter | clinical testing | The p.R1711W variant (also known as c.5131C>T), located in coding exon 12 of the ALPK3 gene, results from a C to T substitution at nucleotide position 5131. The arginine at codon 1711 is replaced by tryptophan, an amino acid with dissimilar properties. This amino acid position is highly conserved in available vertebrate species. In addition, this alteration is predicted to be tolerated by in silico analysis. Based on the available evidence, the clinical significance of this alteration remains unclear. |
| Labcorp Genetics |
RCV003102691 | SCV003479093 | uncertain significance | not provided | 2024-07-30 | criteria provided, single submitter | clinical testing | This sequence change replaces arginine, which is basic and polar, with tryptophan, which is neutral and slightly polar, at codon 1711 of the ALPK3 protein (p.Arg1711Trp). This variant is present in population databases (rs776900526, gnomAD 0.008%). This variant has not been reported in the literature in individuals affected with ALPK3-related conditions. ClinVar contains an entry for this variant (Variation ID: 1745555). 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. |
| Baylor Genetics | RCV003147765 | SCV003835380 | uncertain significance | Cardiomyopathy, familial hypertrophic 27 | 2022-11-03 | criteria provided, single submitter | clinical testing |