ClinVar Miner

Submissions for variant NM_004975.4(KCNB1):c.525_526del (p.Trp176fs)

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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 RCV003055274 SCV003342270 uncertain significance Developmental and epileptic encephalopathy, 26 2023-07-10 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Trp176Glyfs*37) in the KCNB1 gene. While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 683 amino acid(s) of the KCNB1 protein. This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with KCNB1-related conditions. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.

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