ClinVar Miner

Submissions for variant NM_139318.5(KCNH5):c.2866C>A (p.Gln956Lys)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 2
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002923200 SCV003268322 uncertain significance Early infantile epileptic encephalopathy with suppression bursts 2022-10-15 criteria provided, single submitter clinical testing 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. 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 KCNH5 protein function. This variant has not been reported in the literature in individuals affected with KCNH5-related conditions. This variant is present in population databases (no rsID available, gnomAD 0.001%). This sequence change replaces glutamine, which is neutral and polar, with lysine, which is basic and polar, at codon 956 of the KCNH5 protein (p.Gln956Lys).
Ambry Genetics RCV004983202 SCV005600726 uncertain significance Inborn genetic diseases 2024-10-16 criteria provided, single submitter clinical testing The c.2866C>A (p.Q956K) alteration is located in exon 11 (coding exon 11) of the KCNH5 gene. This alteration results from a C to A substitution at nucleotide position 2866, causing the glutamine (Q) at amino acid position 956 to be replaced by a lysine (K). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.