ClinVar Miner

Submissions for variant NM_004975.4(KCNB1):c.1971del (p.Lys658fs)

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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 RCV002810862 SCV003203436 likely benign Developmental and epileptic encephalopathy, 26 2022-11-01 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV004529173 SCV004111937 uncertain significance KCNB1-related disorder 2023-03-15 criteria provided, single submitter clinical testing The KCNB1 c.1971delC variant is predicted to result in a frameshift and premature protein termination (p.Lys658Argfs*4). To our knowledge, this variant has not been reported in the literature or in a large population database (http://gnomad.broadinstitute.org), indicating this variant is rare. Although we suspect that this variant may be pathogenic, at this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence.

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