ClinVar Miner

Submissions for variant NM_001161352.2(KCNMA1):c.52_60dup (p.Gly20_Ser21insGlyGlyGly)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002586901 SCV002943187 uncertain significance Generalized epilepsy-paroxysmal dyskinesia syndrome 2023-12-11 criteria provided, single submitter clinical testing This variant, c.52_60dup, results in the insertion of 3 amino acid(s) of the KCNMA1 protein (p.Gly18_Gly20dup), but otherwise preserves the integrity of the reading frame. This variant is not present in population databases (gnomAD no frequency). 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: 1906419). Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant 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.
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center RCV003992673 SCV004810136 uncertain significance Liang-Wang syndrome 2024-04-04 criteria provided, single submitter clinical testing

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