ClinVar Miner

Submissions for variant NM_004519.4(KCNQ3):c.2146G>C (p.Asp716His)

gnomAD frequency: 0.00001  dbSNP: rs149324120
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000187992 SCV000241595 likely benign not provided 2019-01-31 criteria provided, single submitter clinical testing
Invitae RCV000797329 SCV000936881 uncertain significance Benign neonatal seizures 2023-12-13 criteria provided, single submitter clinical testing This sequence change replaces aspartic acid, which is acidic and polar, with histidine, which is basic and polar, at codon 716 of the KCNQ3 protein (p.Asp716His). This variant is present in population databases (rs149324120, gnomAD 0.02%). This variant has not been reported in the literature in individuals affected with KCNQ3-related conditions. ClinVar contains an entry for this variant (Variation ID: 205986). 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.
CeGaT Center for Human Genetics Tuebingen RCV000187992 SCV004163230 uncertain significance not provided 2022-06-01 criteria provided, single submitter clinical testing

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