ClinVar Miner

Submissions for variant NM_172107.4(KCNQ2):c.1168C>T (p.Gln390Ter)

dbSNP: rs2145637412
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001982939 SCV002238022 pathogenic Early infantile epileptic encephalopathy with suppression bursts 2024-10-30 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Gln390*) 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: 1459931). For these reasons, this variant has been classified as Pathogenic.
3billion, Medical Genetics RCV002250792 SCV002521171 likely pathogenic Developmental and epileptic encephalopathy, 7 2022-05-22 criteria provided, single submitter clinical testing The variant is not observed in the gnomAD v2.1.1 dataset. Stop-gained (nonsense): predicted to result in a loss or disruption of normal protein function through nonsense-mediated decay (NMD) or protein truncation. Multiple pathogenic variants are reported downstream of the variant. Therefore, this variant is classified as likely pathogenic according to the recommendation of ACMG/AMP guideline.

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