Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Human Genome Sequencing Center Clinical Lab, |
RCV001258176 | SCV001435064 | uncertain significance | Long QT syndrome 1; Jervell and Lange-Nielsen syndrome 1 | criteria provided, single submitter | clinical testing | ||
Institute of Human Genetics, |
RCV003127738 | SCV003803710 | uncertain significance | Long QT syndrome 1 | 2023-02-16 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV003166588 | SCV003855707 | uncertain significance | Cardiovascular phenotype | 2022-11-22 | criteria provided, single submitter | clinical testing | The p.G628S variant (also known as c.1882G>A), located in coding exon 16 of the KCNQ1 gene, results from a G to A substitution at nucleotide position 1882. The glycine at codon 628 is replaced by serine, an amino acid with similar properties. This amino acid position is well conserved in available vertebrate species. In addition, this alteration is predicted to be tolerated by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear. |
Color Diagnostics, |
RCV003591850 | SCV004358448 | uncertain significance | Cardiac arrhythmia | 2023-03-01 | criteria provided, single submitter | clinical testing | This missense variant replaces glycine with serine at codon 628 of the KCNQ1 protein. Computational prediction is inconclusive regarding the impact of this variant on protein structure and function (internally defined REVEL score threshold 0.5 < inconclusive < 0.7, PMID: 27666373). To our knowledge, functional studies have not been reported for this variant. This variant has not been reported in individuals affected with KCNQ1-related disorders in the literature. This variant has been identified in 7/215058 chromosomes in the general population by the Genome Aggregation Database (gnomAD). The available evidence is insufficient to determine the role of this variant in disease conclusively. Therefore, this variant is classified as a Variant of Uncertain Significance. |