Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000187981 | SCV000241584 | uncertain significance | not provided | 2021-06-28 | criteria provided, single submitter | clinical testing | Previously identified in a patient with idiopathic epilepsy and was not detected in controls; however, no additional information was provided (Klassen et al., 2011); Not observed at a significant frequency in large population cohorts (Lek et al., 2016); In silico analysis, which includes protein predictors and evolutionary conservation, supports that this variant does not alter protein structure/function; This variant is associated with the following publications: (PMID: 28488083, 27535533, 21703448) |
Ambry Genetics | RCV000622336 | SCV000742150 | uncertain significance | Inborn genetic diseases | 2017-02-20 | criteria provided, single submitter | clinical testing | |
Invitae | RCV001211061 | SCV001382583 | uncertain significance | Benign neonatal seizures | 2023-12-27 | criteria provided, single submitter | clinical testing | This sequence change replaces proline, which is neutral and non-polar, with threonine, which is neutral and polar, at codon 574 of the KCNQ3 protein (p.Pro574Thr). This variant is present in population databases (rs74582884, gnomAD 0.004%). This missense change has been observed in individual(s) with idiopathic epilepsy (PMID: 21703448). ClinVar contains an entry for this variant (Variation ID: 205976). 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 not expected to disrupt KCNQ3 protein function with a negative predictive value of 80%. 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. |
Zotz- |
RCV003333741 | SCV004041646 | uncertain significance | Seizures, benign familial neonatal, 2 | 2023-10-09 | no assertion criteria provided | clinical testing |