ClinVar Miner

Submissions for variant NM_172107.4(KCNQ2):c.195_196del (p.Lys66fs)

dbSNP: rs2145921462
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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 RCV001388486 SCV001589485 pathogenic Early infantile epileptic encephalopathy with suppression bursts 2020-05-06 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Lys66Alafs*53) in the KCNQ2 gene. It is expected to result in an absent or disrupted protein product. The frequency data for this variant in the population databases is considered unreliable, as metrics indicate insufficient coverage at this position in the ExAC database. 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.

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