ClinVar Miner

Submissions for variant NM_172107.4(KCNQ2):c.1520C>A (p.Ser507Ter)

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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 RCV003754590 SCV004505620 pathogenic Early infantile epileptic encephalopathy with suppression bursts 2023-09-25 criteria provided, single submitter clinical testing This variant has not been reported in the literature in individuals affected with KCNQ2-related conditions. This sequence change creates a premature translational stop signal (p.Ser507*) 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). For these reasons, this variant has been classified as Pathogenic.
Athena Diagnostics RCV004999993 SCV005622229 likely pathogenic not provided 2024-07-30 criteria provided, single submitter clinical testing This variant is expected to result in the loss of a functional protein. This variant has not been reported in large, multi-ethnic general populations. (http://gnomad.broadinstitute.org)

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