ClinVar Miner

Submissions for variant NM_001161352.2(KCNMA1):c.15_16insAGC (p.Gly6_Gly7insSer) (rs780558929)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Clinical Services Laboratory,Illumina RCV000277580 SCV000365143 likely benign Generalized epilepsy and paroxysmal dyskinesia 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000277580 SCV000761471 uncertain significance Generalized epilepsy and paroxysmal dyskinesia 2017-08-28 criteria provided, single submitter clinical testing This variant, c.15_16insAGC, results in the insertion of 1 amino acid to the KCNMA1 protein (p.Gly5_Gly6insSer), but otherwise preserves the integrity of the reading frame. The frequency data for this variant in the population databases is considered unreliable, as metrics indicate poor data quality at this position in the ExAC database. This variant has not been reported in the literature in individuals with KCNMA1-related disease. ClinVar contains an entry for this variant (Variation ID: 300975). Experimental studies and prediction algorithms are not available for this variant, and the functional significance of the inserted amino acid is currently unknown. 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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