ClinVar Miner

Submissions for variant NM_004519.4(KCNQ3):c.2455G>A (p.Gly819Ser)

gnomAD frequency: 0.00001  dbSNP: rs540574784
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000538307 SCV000649489 uncertain significance Benign neonatal seizures 2022-07-09 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 not expected to disrupt KCNQ3 protein function. ClinVar contains an entry for this variant (Variation ID: 471224). This variant has not been reported in the literature in individuals affected with KCNQ3-related conditions. This variant is present in population databases (rs540574784, gnomAD 0.01%). This sequence change replaces glycine, which is neutral and non-polar, with serine, which is neutral and polar, at codon 819 of the KCNQ3 protein (p.Gly819Ser). 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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