ClinVar Miner

Submissions for variant NM_001161352.2(KCNMA1):c.31_54del (p.Ser11_Gly18del)

dbSNP: rs587780364
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000117330 SCV000151511 uncertain significance not provided 2013-10-02 criteria provided, single submitter clinical testing
Invitae RCV000534770 SCV000638717 uncertain significance Generalized epilepsy-paroxysmal dyskinesia syndrome 2023-12-17 criteria provided, single submitter clinical testing This variant, c.31_54del, results in the deletion of 8 amino acid(s) of the KCNMA1 protein (p.Ser11_Gly18del), 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 gnomAD database. 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: 129327). 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.
GeneDx RCV000117330 SCV001871327 uncertain significance not provided 2022-05-03 criteria provided, single submitter clinical testing In-frame deletion of 8 amino acids in a non-repeat region; In silico analysis supports that this variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge

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