ClinVar Miner

Submissions for variant NM_004519.4(KCNQ3):c.2329C>T (p.Arg777Trp)

gnomAD frequency: 0.00002  dbSNP: rs776128068
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000802132 SCV000941949 uncertain significance Benign neonatal seizures 2023-08-14 criteria provided, single submitter clinical testing This variant is present in population databases (rs776128068, gnomAD 0.006%). 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 KCNQ3 protein function. ClinVar contains an entry for this variant (Variation ID: 647590). This variant has not been reported in the literature in individuals affected with KCNQ3-related conditions. This sequence change replaces arginine, which is basic and polar, with tryptophan, which is neutral and slightly polar, at codon 777 of the KCNQ3 protein (p.Arg777Trp).
GeneDx RCV003442085 SCV004168196 uncertain significance not provided 2023-04-28 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge

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