ClinVar Miner

Submissions for variant NM_172107.4(KCNQ2):c.308T>A (p.Val103Asp)

dbSNP: rs2145789820
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001929666 SCV002197776 pathogenic Early infantile epileptic encephalopathy with suppression bursts 2023-07-23 criteria provided, single submitter clinical testing This missense change has been observed in individual(s) with clinical features of KCNQ2-related conditions (Invitae). 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 valine, which is neutral and non-polar, with aspartic acid, which is acidic and polar, at codon 103 of the KCNQ2 protein (p.Val103Asp). ClinVar contains an entry for this variant (Variation ID: 1426976). 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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