ClinVar Miner

Submissions for variant NM_001161352.2(KCNMA1):c.3627C>T (p.Ile1209=)

gnomAD frequency: 0.00007  dbSNP: rs201924445
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000966711 SCV001114059 likely benign Generalized epilepsy-paroxysmal dyskinesia syndrome 2024-10-23 criteria provided, single submitter clinical testing
GeneDx RCV001593154 SCV001815329 uncertain significance not provided 2019-07-25 criteria provided, single submitter clinical testing In silico analysis, which includes splice predictors and evolutionary conservation, suggests this variant may impact gene splicing. In the absence of RNA/functional studies, the actual effect of this sequence change is unknown; Has not been previously published as pathogenic or benign to our knowledge
PreventionGenetics, part of Exact Sciences RCV004553462 SCV004737257 likely benign KCNMA1-related disorder 2020-04-14 no assertion criteria provided clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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