ClinVar Miner

Submissions for variant NM_172107.4(KCNQ2):c.848del (p.Lys283fs)

dbSNP: rs1555870506
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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 RCV000636285 SCV000757724 pathogenic Early infantile epileptic encephalopathy with suppression bursts 2024-04-11 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Lys283Serfs*36) in the KCNQ2 gene. It is expected to 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 is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with KCNQ2-related conditions. ClinVar contains an entry for this variant (Variation ID: 530425). For these reasons, this variant has been classified as Pathogenic.

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