Total submissions: 4
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Center For Human Genetics And Laboratory Diagnostics, |
RCV000678948 | SCV000805162 | pathogenic | Long QT syndrome 1 | 2018-04-08 | criteria provided, single submitter | clinical testing | |
| Labcorp Genetics |
RCV000692678 | SCV000820514 | likely pathogenic | Long QT syndrome | 2023-09-17 | criteria provided, single submitter | clinical testing | Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is expected to disrupt KCNQ1 protein function. Experimental studies have shown that this missense change affects KCNQ1 function (PMID: 30571187, 36674868). In summary, the currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as Likely Pathogenic. ClinVar contains an entry for this variant (Variation ID: 560702). This sequence change replaces glycine, which is neutral and non-polar, with arginine, which is basic and polar, at codon 119 of the KCNQ1 protein (p.Gly119Arg). This variant is not present in population databases (gnomAD no frequency). This missense change has been observed in individuals with long QT syndrome (PMID: 26669661, 31737537, 32383558, 36674868; Invitae). |
| Ce |
RCV003886428 | SCV004704451 | likely pathogenic | not provided | 2024-02-01 | criteria provided, single submitter | clinical testing | KCNQ1: PM1, PM2, PP2, PP3, PS3:Supporting |
| Bioscientia Institut fuer Medizinische Diagnostik Gmb |
RCV000678948 | SCV001468142 | uncertain significance | Long QT syndrome 1 | 2020-06-16 | no assertion criteria provided | clinical testing |