ClinVar Miner

Submissions for variant NM_001161352.2(KCNMA1):c.741C>A (p.Asn247Lys)

dbSNP: rs2098818815
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001034811 SCV001198110 uncertain significance Generalized epilepsy-paroxysmal dyskinesia syndrome 2019-03-06 criteria provided, single submitter clinical testing 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: "Tolerated"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). This variant has not been reported in the literature in individuals with KCNMA1-related conditions. This variant is not present in population databases (ExAC no frequency). This sequence change replaces asparagine with lysine at codon 247 of the KCNMA1 protein (p.Asn247Lys). The asparagine residue is moderately conserved and there is a moderate physicochemical difference between asparagine and lysine.

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