ClinVar Miner

Submissions for variant NM_004975.4(KCNB1):c.152G>T (p.Arg51Leu)

dbSNP: rs2122803715
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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 RCV001992258 SCV002284404 uncertain significance Developmental and epileptic encephalopathy, 26 2021-06-07 criteria provided, single submitter clinical testing This variant has not been reported in the literature in individuals with KCNB1-related conditions. Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be disruptive, but these predictions have not been confirmed by published functional studies and their clinical significance is uncertain. 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. This variant is not present in population databases (ExAC no frequency). This sequence change replaces arginine with leucine at codon 51 of the KCNB1 protein (p.Arg51Leu). The arginine residue is highly conserved and there is a moderate physicochemical difference between arginine and leucine.

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