ClinVar Miner

Submissions for variant NM_004519.4(KCNQ3):c.293A>G (p.Lys98Arg)

gnomAD frequency: 0.00001  dbSNP: rs143194379
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000497536 SCV000589437 uncertain significance not provided 2020-03-24 criteria provided, single submitter clinical testing Not observed at a significant frequency in large population cohorts (Lek et al., 2016); 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
New York Genome Center RCV001256083 SCV001432870 uncertain significance Seizure 2020-01-29 criteria provided, single submitter clinical testing
Invitae RCV002527131 SCV003466349 uncertain significance Benign neonatal seizures 2022-08-11 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 KCNQ3 protein function. ClinVar contains an entry for this variant (Variation ID: 431878). This variant has not been reported in the literature in individuals affected with KCNQ3-related conditions. This variant is present in population databases (rs143194379, gnomAD 0.002%). This sequence change replaces lysine, which is basic and polar, with arginine, which is basic and polar, at codon 98 of the KCNQ3 protein (p.Lys98Arg).

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