ClinVar Miner

Submissions for variant NM_001161352.2(KCNMA1):c.2092C>T (p.Pro698Ser)

gnomAD frequency: 0.00002  dbSNP: rs886043569
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000264881 SCV000340794 uncertain significance not provided 2016-04-12 criteria provided, single submitter clinical testing
Invitae RCV001066786 SCV001231806 uncertain significance Generalized epilepsy-paroxysmal dyskinesia syndrome 2023-12-11 criteria provided, single submitter clinical testing This sequence change replaces leucine, which is neutral and non-polar, with phenylalanine, which is neutral and non-polar, at codon 698 of the KCNMA1 protein (p.Leu698Phe). This variant is present in population databases (no rsID available, gnomAD 0.02%). 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: 287117). 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 tolerated. 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 RCV000264881 SCV001987587 uncertain significance not provided 2019-05-28 criteria provided, single submitter clinical testing In silico analysis, which includes protein predictors and evolutionary conservation, supports a deleterious effect; Has not been previously published as pathogenic or benign to our knowledge

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