Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000416041 | SCV000241594 | likely benign | not provided | 2019-11-04 | criteria provided, single submitter | clinical testing | |
Ce |
RCV000416041 | SCV000493680 | uncertain significance | not provided | 2016-06-01 | criteria provided, single submitter | clinical testing | |
Invitae | RCV001232845 | SCV001405417 | uncertain significance | Benign neonatal seizures | 2023-12-18 | criteria provided, single submitter | clinical testing | This sequence change replaces histidine, which is basic and polar, with arginine, which is basic and polar, at codon 715 of the KCNQ3 protein (p.His715Arg). This variant is present in population databases (rs112314858, gnomAD 0.02%). This missense change has been observed in individuals with clinical features of early infantile epileptic encephalopathy (Invitae). ClinVar contains an entry for this variant (Variation ID: 205985). 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 95%. 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. |
Ambry Genetics | RCV002517874 | SCV003556336 | likely benign | Inborn genetic diseases | 2021-06-22 | criteria provided, single submitter | clinical testing | This alteration is classified as likely benign based on a combination of the following: population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity. |