ClinVar Miner

Submissions for variant NM_004519.4(KCNQ3):c.1720C>A (p.Pro574Thr)

dbSNP: rs74582884
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000187981 SCV000241584 uncertain significance not provided 2021-06-28 criteria provided, single submitter clinical testing Previously identified in a patient with idiopathic epilepsy and was not detected in controls; however, no additional information was provided (Klassen et al., 2011); Not observed at a significant frequency in large population cohorts (Lek et al., 2016); In silico analysis, which includes protein predictors and evolutionary conservation, supports that this variant does not alter protein structure/function; This variant is associated with the following publications: (PMID: 28488083, 27535533, 21703448)
Ambry Genetics RCV000622336 SCV000742150 uncertain significance Inborn genetic diseases 2017-02-20 criteria provided, single submitter clinical testing
Invitae RCV001211061 SCV001382583 uncertain significance Benign neonatal seizures 2023-12-27 criteria provided, single submitter clinical testing This sequence change replaces proline, which is neutral and non-polar, with threonine, which is neutral and polar, at codon 574 of the KCNQ3 protein (p.Pro574Thr). This variant is present in population databases (rs74582884, gnomAD 0.004%). This missense change has been observed in individual(s) with idiopathic epilepsy (PMID: 21703448). ClinVar contains an entry for this variant (Variation ID: 205976). 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 with a negative predictive value of 80%. 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.
Zotz-Klimas Genetics Lab, MVZ Zotz Klimas RCV003333741 SCV004041646 uncertain significance Seizures, benign familial neonatal, 2 2023-10-09 no assertion criteria provided clinical testing

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