ClinVar Miner

Submissions for variant NM_172107.4(KCNQ2):c.853C>T (p.Pro285Ser)

dbSNP: rs2081101244
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Institute of Human Genetics, University of Leipzig Medical Center RCV001252990 SCV001428481 likely pathogenic Developmental and epileptic encephalopathy, 7 2019-01-11 criteria provided, single submitter clinical testing
Invitae RCV001879862 SCV002127368 pathogenic Early infantile epileptic encephalopathy with suppression bursts 2023-04-09 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. 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 KCNQ2 protein function. ClinVar contains an entry for this variant (Variation ID: 975869). This missense change has been observed in individual(s) with clinical features of KCNQ2-related conditions (PMID: 30182498, 31552204). In at least one individual the variant was observed to be de novo. This variant is not present in population databases (gnomAD no frequency). This sequence change replaces proline, which is neutral and non-polar, with serine, which is neutral and polar, at codon 285 of the KCNQ2 protein (p.Pro285Ser).

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