ClinVar Miner

Submissions for variant NM_001161352.2(KCNMA1):c.2484+1746C>T

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago RCV003224695 SCV003920101 uncertain significance Generalized epilepsy-paroxysmal dyskinesia syndrome; Cerebellar atrophy, developmental delay, and seizures; Epilepsy, idiopathic generalized, susceptibility to, 16; Liang-Wang syndrome 2021-03-30 criteria provided, single submitter clinical testing KCNMA1 NM_001161353 p.Ser805Ser (c.2415C>T): This variant has not been reported in the literature but is present in 6/23968 Latino individuals, including 1 homozygote in the Genome Aggregation Database (http://gnomad.broadinstitute.org/rs not available). Evolutionary conservation and computational predictive tools for this variant are limited or unavailable. Of note, this variant is a silent variant and does not change the amino acid, reducing the probability that this variant is disease causing. In summary, data on this variant is insufficient for disease classification. Therefore, the clinical significance of this variant is uncertain.

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