ClinVar Miner

Submissions for variant NM_004519.4(KCNQ3):c.1538C>T (p.Pro513Leu)

gnomAD frequency: 0.00001  dbSNP: rs768520561
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000187978 SCV000241581 uncertain significance not provided 2023-09-26 criteria provided, single submitter clinical testing Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
Invitae RCV001852469 SCV002145652 uncertain significance Benign neonatal seizures 2022-02-11 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 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. ClinVar contains an entry for this variant (Variation ID: 205973). This variant has not been reported in the literature in individuals affected with KCNQ3-related conditions. This variant is present in population databases (rs768520561, gnomAD 0.002%). This sequence change replaces proline, which is neutral and non-polar, with leucine, which is neutral and non-polar, at codon 513 of the KCNQ3 protein (p.Pro513Leu).

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