ClinVar Miner

Submissions for variant NM_172107.4(KCNQ2):c.1154del (p.Ile385fs)

dbSNP: rs2145637609
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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 RCV001972359 SCV002241223 pathogenic Early infantile epileptic encephalopathy with suppression bursts 2024-06-13 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Ile385Thrfs*4) 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 premature translational stop signal has been observed in individual(s) with KCNQ2-related conditions (PMID: 31164858). ClinVar contains an entry for this variant (Variation ID: 1456321). For these reasons, this variant has been classified as Pathogenic.

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