ClinVar Miner

Submissions for variant NM_001161352.2(KCNMA1):c.1831G>C (p.Val611Leu)

dbSNP: rs200668674
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Institute of Human Genetics, University of Leipzig Medical Center RCV001253327 SCV001428987 uncertain significance Generalized epilepsy-paroxysmal dyskinesia syndrome 2018-07-17 criteria provided, single submitter clinical testing
Invitae RCV001253327 SCV002594699 uncertain significance Generalized epilepsy-paroxysmal dyskinesia syndrome 2023-02-10 criteria provided, single submitter clinical testing This sequence change replaces valine, which is neutral and non-polar, with leucine, which is neutral and non-polar, at codon 611 of the KCNMA1 protein (p.Val611Leu). This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with KCNMA1-related conditions. ClinVar contains an entry for this variant (Variation ID: 976127). 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 KCNMA1 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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