ClinVar Miner

Submissions for variant NM_172107.4(KCNQ2):c.1997C>T (p.Pro666Leu)

dbSNP: rs762130930
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Mendelics RCV000990328 SCV001141268 likely benign Seizures, benign familial neonatal, 1 2019-05-28 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001038267 SCV001201731 uncertain significance Early infantile epileptic encephalopathy with suppression bursts 2024-12-06 criteria provided, single submitter clinical testing This sequence change replaces proline, which is neutral and non-polar, with leucine, which is neutral and non-polar, at codon 666 of the KCNQ2 protein (p.Pro666Leu). This variant is present in population databases (rs762130930, gnomAD 0.0009%). This missense change has been observed in individual(s) with KCNQ2-related conditions (PMID: 35813072). ClinVar contains an entry for this variant (Variation ID: 803618). Invitae Evidence Modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) indicates that this missense variant is expected to disrupt KCNQ2 protein function with a positive 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.
Centre for Mendelian Genomics, University Medical Centre Ljubljana RCV001198062 SCV001368847 uncertain significance Developmental and epileptic encephalopathy, 7 2020-03-17 criteria provided, single submitter clinical testing This variant was classified as: Uncertain significance. The following ACMG criteria were applied in classifying this variant: PM2,PP2,PP3.
Unidad de Genómica Garrahan, Hospital de Pediatría Garrahan RCV003483749 SCV004232397 likely benign not specified 2024-01-11 criteria provided, single submitter clinical testing

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