ClinVar Miner

Submissions for variant NM_172107.4(KCNQ2):c.329_332del (p.Ser110fs)

dbSNP: rs1064796151
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000480357 SCV000572615 pathogenic not provided 2019-04-08 criteria provided, single submitter clinical testing Frameshift variant predicted to result in protein truncation or nonsense mediated decay in a gene for which loss-of-function is a known mechanism of disease; Not observed in large population cohorts (Lek et al., 2016); Has not been previously published as pathogenic or benign to our knowledge
Labcorp Genetics (formerly Invitae), Labcorp RCV001055167 SCV001219541 pathogenic Early infantile epileptic encephalopathy with suppression bursts 2024-11-05 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Ser110Cysfs*22) 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: 422997). For these reasons, this variant has been classified as Pathogenic.

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