ClinVar Miner

Submissions for variant NM_004975.4(KCNB1):c.682C>T (p.Gln228Ter)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV003985182 SCV004801499 pathogenic Developmental and epileptic encephalopathy, 26 2020-04-16 criteria provided, single submitter clinical testing The KCNB1 c.682C>T p.(Gln228Ter) nonsense variant is expected to result in the loss of normal protein function through either protein truncation or nonsense-mediated mRNA decay. This variant has been identified in a de novo state in an individual with a phenotype consistent with developmental and epileptic encephalopathy (de Kovel et al. 2017; Bar et al. 2020). This variant is not observed in version 2.1.1 of the Genome Aggregation Database. The variant was identified in a de novo state in the proband. Based on the available evidence the c.682C>T p.(Gln228Ter)variant is classified as pathogenic for developmental and epileptic encephalopathy.

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