ClinVar Miner

Submissions for variant NM_004975.4(KCNB1):c.919A>G (p.Ile307Val)

dbSNP: rs1984261678
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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 RCV001366969 SCV001563295 likely pathogenic Developmental and epileptic encephalopathy, 26 2023-08-08 criteria provided, single submitter clinical testing In summary, the currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as Likely Pathogenic. 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) has been performed at Invitae for this missense variant, however the output from this modeling did not meet the statistical confidence thresholds required to predict the impact of this variant on KCNB1 protein function. ClinVar contains an entry for this variant (Variation ID: 1057900). This missense change has been observed in individual(s) with KCNB1-related conditions (Invitae). In at least one individual the variant was observed to be de novo. This variant is not present in population databases (gnomAD no frequency). This sequence change replaces isoleucine, which is neutral and non-polar, with valine, which is neutral and non-polar, at codon 307 of the KCNB1 protein (p.Ile307Val).

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