ClinVar Miner

Submissions for variant NM_004975.4(KCNB1):c.1727C>A (p.Thr576Lys)

gnomAD frequency: 0.00001  dbSNP: rs1355278265
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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 RCV000541797 SCV000655426 uncertain significance Developmental and epileptic encephalopathy, 26 2021-04-27 criteria provided, single submitter clinical testing This sequence change replaces threonine with lysine at codon 576 of the KCNB1 protein (p.Thr576Lys). The threonine residue is moderately conserved and there is a moderate physicochemical difference between threonine and lysine. This variant is not present in population databases (ExAC no frequency) and has not been reported in the literature in individuals with a KCNB1-related disease. 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 tolerated, but these predictions have not been confirmed by published functional studies. In summary, this variant is a novel missense change that is not predicted to affect protein function. There is no indication that it causes disease, but the available evidence is currently insufficient to prove that conclusively. Therefore, it has been classified as a Variant of Uncertain Significance.

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