ClinVar Miner

Submissions for variant NC_000020.10:g.(?_62037997)_(62046489_?)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 RCV001386829 SCV001587194 pathogenic Early infantile epileptic encephalopathy with suppression bursts 2021-08-04 criteria provided, single submitter clinical testing This variant is a gross deletion of the genomic region encompassing exon(s) 13-17 of the KCNQ2 gene. The 5' boundary is likely confined to intron 12. 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 lead to nonsense mediated decay, it is expected to alter mRNA translation or result in a truncated protein product. A similar copy number variant has been observed in individual(s) with seizures (PMID: 23360469). This variant disrupts a region of the KCNQ2 protein in which other variant(s) (p.Gly727Alafs*140) 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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