ClinVar Miner

Submissions for variant NM_172107.4(KCNQ2):c.778C>T (p.His260Tyr)

dbSNP: rs1555871832
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
NeuroMeGen, Hospital Clinico Santiago de Compostela RCV000585840 SCV000693783 likely pathogenic Developmental and epileptic encephalopathy, 7 2018-01-01 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001867902 SCV002118414 pathogenic Early infantile epileptic encephalopathy with suppression bursts 2022-11-29 criteria provided, single submitter clinical testing This missense change has been observed in individual(s) with developmental and epileptic encephalopathy (PMID: 31780880). 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 histidine, which is basic and polar, with tyrosine, which is neutral and polar, at codon 260 of the KCNQ2 protein (p.His260Tyr). ClinVar contains an entry for this variant (Variation ID: 495248). 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.

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