Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000479776 | SCV000565092 | uncertain significance | not provided | 2022-06-29 | criteria provided, single submitter | clinical testing | Has not been previously published as pathogenic or benign to our knowledge; In silico analysis supports that this missense variant does not alter protein structure/function |
Ambry Genetics | RCV000620671 | SCV000738135 | uncertain significance | Cardiovascular phenotype | 2019-08-12 | criteria provided, single submitter | clinical testing | The p.E11K variant (also known as c.31G>A), located in coding exon 1 of the KCNQ1 gene, results from a G to A substitution at nucleotide position 31. The glutamic acid at codon 11 is replaced by lysine, an amino acid with similar properties, and is located in the N-terminal region of the protein. This amino acid position is conserved on limited sequence alignment. In addition, the in silico prediction for this alteration is inconclusive. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear. |
Labcorp Genetics |
RCV001856813 | SCV002218547 | uncertain significance | Long QT syndrome | 2022-03-14 | criteria provided, single submitter | clinical testing | This sequence change replaces glutamic acid, which is acidic and polar, with lysine, which is basic and polar, at codon 11 of the KCNQ1 protein (p.Glu11Lys). 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 are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0"). ClinVar contains an entry for this variant (Variation ID: 418271). This variant has not been reported in the literature in individuals affected with KCNQ1-related conditions. The frequency data for this variant in the population databases is considered unreliable, as metrics indicate insufficient coverage at this position in the gnomAD database. |