ClinVar Miner

Submissions for variant NC_000020.11:g.(?_63428347)_(63433923_?)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 RCV000806577 SCV000946581 pathogenic Early infantile epileptic encephalopathy with suppression bursts 2018-09-26 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. Loss-of-function variants in KCNQ2 are known to be pathogenic (PMID: 14534157, 23692823, 25951140, 25959266, 26758118, 27779742). This variant has not been reported in the literature in individuals with KCNQ2-related disease. This variant is an out-of-frame deletion of the genomic region encompassing exons 8-10 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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