ClinVar Miner

Submissions for variant NM_004975.4(KCNB1):c.117del (p.Leu40fs)

dbSNP: rs1601162716
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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 RCV000806054 SCV000946034 uncertain significance Developmental and epileptic encephalopathy, 26 2018-11-14 criteria provided, single submitter clinical testing 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. The current clinical and genetic evidence is not sufficient to establish whether loss-of-function variants in KCNB1 cause disease. This variant has not been reported in the literature in individuals with KCNB1-related disease. The frequency data for this variant in the population databases is considered unreliable, as metrics indicate insufficient coverage at this position in the ExAC database. This sequence change creates a premature translational stop signal (p.Leu40Trpfs*67) in the KCNB1 gene. It is expected to result in an absent or disrupted protein product.

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