ClinVar Miner

Submissions for variant NC_000020.10:g.(?_61977556)_(62039909_?)del

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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 RCV001381835 SCV001580366 pathogenic Early infantile epileptic encephalopathy with suppression bursts 2020-06-24 criteria provided, single submitter clinical testing This variant is a gross deletion of the genomic region encompassing exons 16-17 of the KCNQ2 gene. The 5' boundary is likely confined to intron 15. The 3' end of this event is unknown as it extends through the termination codon beyond the assayed region for this gene and may encompass additional genes. While this deletion is not anticipated to result in nonsense mediated decay, it is expected to create a truncated protein product or disrupt mRNA translation. A similar copy number variant has been observed in individual(s) with an epileptic disorder (PMID: 27054081). This variant disrupts the C-terminus of the KCNQ2 protein. Other variant(s) that disrupt this region (p.Cys774Leufs*91) have been determined to be pathogenic (PMID: 23692823). This suggests that variants that disrupt this region of the protein are likely to be causative of disease. For these reasons, this variant has been classified as Pathogenic.

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