ClinVar Miner

Submissions for variant NC_000020.10:g.(?_62069968)_(62078200_?)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 RCV001381837 SCV001580368 pathogenic Early infantile epileptic encephalopathy with suppression bursts 2020-06-18 criteria provided, single submitter clinical testing This variant has not been reported in the literature in individuals with KCNQ2-related conditions. Loss-of-function variants in KCNQ2 are known to be pathogenic (PMID: 14534157, 23692823, 27779742). For these reasons, this variant has been classified as Pathogenic. This variant is an out-of-frame deletion of the genomic region encompassing exons 2-7 of the KCNQ2 gene. This is expected to create a premature translational stop signal and result in an absent or disrupted protein product.

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