ClinVar Miner

Submissions for variant NM_172107.4(KCNQ2):c.1955dup (p.Thr653fs)

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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 RCV003753717 SCV004539077 pathogenic Early infantile epileptic encephalopathy with suppression bursts 2024-01-17 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Thr653Aspfs*212) in the KCNQ2 gene. While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 220 amino acid(s) of the KCNQ2 protein. This variant is not present in population databases (gnomAD no frequency). This premature translational stop signal has been observed in individual(s) with KCNQ2-related conditions (PMID: 28926830). In at least one individual the variant was observed to be de novo. This variant disrupts a region of the KCNQ2 protein in which other variant(s) (p.Lys829Serfs*35) have been determined to be pathogenic (Invitae). This suggests that this is a clinically significant region of the protein, and that variants that disrupt it are likely to be disease-causing. For these reasons, this variant has been classified as Pathogenic.

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