ClinVar Miner

Submissions for variant NM_001161352.2(KCNMA1):c.253C>A (p.Arg85Ser)

dbSNP: rs2154572127
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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 RCV001910312 SCV002182308 uncertain significance Generalized epilepsy-paroxysmal dyskinesia syndrome 2021-08-24 criteria provided, single submitter clinical testing This variant is not present in population databases (ExAC no frequency). This sequence change replaces arginine with serine at codon 85 of the KCNMA1 protein (p.Arg85Ser). The arginine residue is moderately conserved and there is a moderate physicochemical difference between arginine and serine. 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: "Probably Damaging"; Align-GVGD: "Class C0").

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