ClinVar Miner

Submissions for variant NM_001161352.2(KCNMA1):c.112G>C (p.Ala38Pro)

dbSNP: rs767099267
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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 RCV001935416 SCV002181419 uncertain significance Generalized epilepsy-paroxysmal dyskinesia syndrome 2021-07-18 criteria provided, single submitter clinical testing This sequence change replaces alanine with proline at codon 38 of the KCNMA1 protein (p.Ala38Pro). The alanine residue is weakly conserved and there is a small physicochemical difference between alanine and proline. 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: "Possibly Damaging"; Align-GVGD: "Class C0"). This variant has not been reported in the literature in individuals affected with KCNMA1-related conditions. This variant is not present in population databases (ExAC no frequency).

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