ClinVar Miner

Submissions for variant NM_004519.4(KCNQ3):c.2318G>A (p.Arg773Gln)

gnomAD frequency: 0.00004  dbSNP: rs769160647
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000187995 SCV000241598 likely benign not provided 2021-06-07 criteria provided, single submitter clinical testing
Invitae RCV000792890 SCV000932216 uncertain significance Benign neonatal seizures 2024-01-10 criteria provided, single submitter clinical testing This sequence change replaces arginine, which is basic and polar, with glutamine, which is neutral and polar, at codon 773 of the KCNQ3 protein (p.Arg773Gln). This variant is present in population databases (rs769160647, gnomAD 0.01%). This variant has not been reported in the literature in individuals affected with KCNQ3-related conditions. ClinVar contains an entry for this variant (Variation ID: 205989). 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.

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