ClinVar Miner

Submissions for variant NM_004519.4(KCNQ3):c.548G>A (p.Arg183Gln)

dbSNP: rs867625794
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001372428 SCV001569084 uncertain significance Benign neonatal seizures 2020-10-24 criteria provided, single submitter clinical testing This sequence change replaces arginine with glutamine at codon 183 of the KCNQ3 protein (p.Arg183Gln). The arginine residue is highly conserved and there is a small physicochemical difference between arginine and glutamine. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with KCNQ3-related conditions. 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 expected to disrupt KCNQ3 protein function. 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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