ClinVar Miner

Submissions for variant NM_001161352.2(KCNMA1):c.3653G>A (p.Arg1218Gln)

gnomAD frequency: 0.00001  dbSNP: rs200723995
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000412806 SCV000492138 uncertain significance not specified 2016-12-07 criteria provided, single submitter clinical testing The R1160Q variant in the KCNMA1 gene has not been reported previously as a pathogenic variant, nor as a benign variant, to our knowledge. The R1160Q variant was not observed in approximately 6500 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, indicating it is not a common benign variant in these populations. The R1160Q variant is a semi-conservative amino acid substitution, which may impact secondary protein structure as these residues differ in some properties. This substitution occurs at a position that is conserved across species. In silico analysis is inconsistent in its predictions as to whether or not the variant is damaging to the protein structure/function. We interpret R1160Q as a variant of uncertain significance.
Invitae RCV000707196 SCV000836283 uncertain significance Generalized epilepsy-paroxysmal dyskinesia syndrome 2022-07-19 criteria provided, single submitter clinical testing This sequence change replaces arginine, which is basic and polar, with glutamine, which is neutral and polar, at codon 1160 of the KCNMA1 protein (p.Arg1160Gln). This variant is present in population databases (rs200723995, gnomAD 0.003%). This variant has not been reported in the literature in individuals affected with KCNMA1-related conditions. 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. Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Benign"; Align-GVGD: "Class C35"). ClinVar contains an entry for this variant (Variation ID: 373537).

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