ClinVar Miner

Submissions for variant NM_004519.4(KCNQ3):c.2351G>A (p.Arg784Gln)

gnomAD frequency: 0.00003  dbSNP: rs754896169
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000187998 SCV000241601 likely benign not provided 2019-02-28 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 29655203)
Invitae RCV002514019 SCV003485335 uncertain significance Benign neonatal seizures 2023-11-07 criteria provided, single submitter clinical testing This sequence change replaces arginine, which is basic and polar, with glutamine, which is neutral and polar, at codon 784 of the KCNQ3 protein (p.Arg784Gln). This variant is present in population databases (rs754896169, gnomAD 0.008%). This missense change has been observed in individual(s) with clinical features of KCNQ3-related conditions (PMID: 29655203, 33149276). ClinVar contains an entry for this variant (Variation ID: 205992). 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 95%. 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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