ClinVar Miner

Submissions for variant NC_000020.11:g.(?_63419599)_(63439728_?)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 RCV000536780 SCV000633754 pathogenic Early infantile epileptic encephalopathy with suppression bursts 2024-01-15 criteria provided, single submitter clinical testing This variant is a gross deletion of the genomic region encompassing exon(s) 6-12 of the KCNQ2 gene. This deletion is out-of-frame, and is expected to create a premature termination codon and result in an absent or disrupted protein product. Loss-of-function variants in KCNQ2 are known to be pathogenic (PMID: 14534157, 23692823, 27779742). This variant has not been reported in the literature in individuals affected with KCNQ2-related conditions. For these reasons, this variant has been classified as Pathogenic.

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