ClinVar Miner

Submissions for variant NM_004975.4(KCNB1):c.1201G>A (p.Gly401Arg)

dbSNP: rs1569017045
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratoire de Génétique Moléculaire Institut de Recherche Necker Enfants Malades, CHU Paris - Hôpital Necker-Enfants Malades RCV000782163 SCV000920627 pathogenic Epileptic encephalopathy 2019-03-01 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001869161 SCV002242187 pathogenic Developmental and epileptic encephalopathy, 26 2021-06-27 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. Experimental studies have shown that this variant affects KCNB1 protein function (PMID: 26477325). 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 expected to disrupt KCNB1 protein function. ClinVar contains an entry for this variant (Variation ID: 633633). This variant has been observed in individual(s) with KCNB1-related conditions (PMID: 26477325, 31513310). In at least one individual the variant was observed to be de novo. This variant is not present in population databases (ExAC no frequency). This sequence change replaces glycine with arginine at codon 401 of the KCNB1 protein (p.Gly401Arg). The glycine residue is highly conserved and there is a moderate physicochemical difference between glycine and arginine.

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