ClinVar Miner

Submissions for variant NM_001161352.2(KCNMA1):c.2547C>A (p.Asp849Glu)

dbSNP: rs147369374
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
New York Genome Center RCV002266687 SCV002548753 uncertain significance Generalized epilepsy-paroxysmal dyskinesia syndrome; Cerebellar atrophy, developmental delay, and seizures; Liang-Wang syndrome 2021-07-16 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV003120863 SCV003787489 uncertain significance Generalized epilepsy-paroxysmal dyskinesia syndrome 2024-08-05 criteria provided, single submitter clinical testing This sequence change replaces aspartic acid, which is acidic and polar, with glutamic acid, which is acidic and polar, at codon 791 of the KCNMA1 protein (p.Asp791Glu). This variant is present in population databases (rs147369374, gnomAD 0.003%). 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: 1696557). An algorithm developed to predict the effect of missense changes on protein structure and function (PolyPhen-2) suggests that this variant is likely to be disruptive. 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.

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