ClinVar Miner

Submissions for variant NM_004975.4(KCNB1):c.2203C>G (p.Pro735Ala)

gnomAD frequency: 0.00001  dbSNP: rs267605983
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000694403 SCV000822847 uncertain significance Developmental and epileptic encephalopathy, 26 2022-06-15 criteria provided, single submitter clinical testing This variant is present in population databases (no rsID available, gnomAD 0.002%). 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. 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. ClinVar contains an entry for this variant (Variation ID: 572894). This variant has not been reported in the literature in individuals affected with KCNB1-related conditions. This sequence change replaces proline, which is neutral and non-polar, with alanine, which is neutral and non-polar, at codon 735 of the KCNB1 protein (p.Pro735Ala).
GeneDx RCV003442032 SCV004168026 uncertain significance not provided 2023-04-19 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge

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