ClinVar Miner

Submissions for variant NM_172107.4(KCNQ2):c.958G>A (p.Val320Ile)

dbSNP: rs2145712541
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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 RCV002003263 SCV002269977 likely pathogenic Early infantile epileptic encephalopathy with suppression bursts 2021-08-11 criteria provided, single submitter clinical testing This sequence change replaces valine with isoleucine at codon 320 of the KCNQ2 protein (p.Val320Ile). The valine residue is highly conserved and there is a small physicochemical difference between valine and isoleucine. This variant is not present in population databases (ExAC no frequency). This missense change has been observed in individual(s) with KCNQ2-related conditions (PMID: 29215089). It has also been observed to segregate with disease in related individuals. 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. In summary, the currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as Likely Pathogenic.

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