Total submissions: 2
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Ambry Genetics | RCV002382945 | SCV002694023 | uncertain significance | Cardiovascular phenotype | 2025-02-12 | criteria provided, single submitter | clinical testing | The p.R332Q variant (also known as c.995G>A), located in coding exon 2 of the KCNJ5 gene, results from a G to A substitution at nucleotide position 995. The arginine at codon 332 is replaced by glutamine, an amino acid with highly 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 data from gnomAD, the frequency for this variant is above the maximum credible frequency for a hyperaldosteronism-causing variant in this gene based on internally established thresholds (Karczewski et al. Nature. 2020 May;581(7809):434-443; Whiffin et al. Genet Med. 2017 10;19:1151-1158). Based on the available evidence, the clinical significance of this variant remains unclear for long QT syndrome; however, it is unlikely to be causative of hyperaldosteronism. |
| Fulgent Genetics, |
RCV005050570 | SCV005675907 | uncertain significance | Long QT syndrome 13; Familial hyperaldosteronism type III | 2024-06-19 | criteria provided, single submitter | clinical testing |