ClinVar Miner

Submissions for variant NM_004975.4(KCNB1):c.2207G>C (p.Arg736Pro)

dbSNP: rs151175979
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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 RCV001977460 SCV002264582 uncertain significance Developmental and epileptic encephalopathy, 26 2021-05-31 criteria provided, single submitter clinical testing This sequence change replaces arginine with proline at codon 736 of the KCNB1 protein (p.Arg736Pro). The arginine residue is moderately conserved and there is a moderate physicochemical difference between arginine and proline. This variant is not present in population databases (ExAC no frequency). This variant has been observed in individual(s) with clinical features of KCNB1-related conditions (Invitae). Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is not expected to disrupt KCNB1 protein function. 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.

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