ClinVar Miner

Submissions for variant NM_001161352.2(KCNMA1):c.2089C>T (p.Arg697Trp)

gnomAD frequency: 0.00002  dbSNP: rs202188493
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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 RCV001306285 SCV001495650 uncertain significance Generalized epilepsy-paroxysmal dyskinesia syndrome 2024-08-26 criteria provided, single submitter clinical testing This sequence change replaces arginine, which is basic and polar, with tryptophan, which is neutral and slightly polar, at codon 697 of the KCNMA1 protein (p.Arg697Trp). This variant is present in population databases (rs202188493, gnomAD 0.04%). 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: 1008876). Invitae Evidence 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 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 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.
Fulgent Genetics, Fulgent Genetics RCV002493605 SCV002793532 uncertain significance Generalized epilepsy-paroxysmal dyskinesia syndrome; Cerebellar atrophy, developmental delay, and seizures; Epilepsy, idiopathic generalized, susceptibility to, 16; Liang-Wang syndrome 2021-11-08 criteria provided, single submitter clinical testing

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