ClinVar Miner

Submissions for variant NM_001161352.2(KCNMA1):c.1680C>A (p.Ala560=)

gnomAD frequency: 0.00003  dbSNP: rs2229008
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000725137 SCV000334359 uncertain significance not provided 2015-08-21 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001085712 SCV000638704 benign Generalized epilepsy-paroxysmal dyskinesia syndrome 2024-12-07 criteria provided, single submitter clinical testing
GeneDx RCV000725137 SCV001790301 likely benign not provided 2020-05-04 criteria provided, single submitter clinical testing In silico analysis, which includes splice predictors and evolutionary conservation, supports that this variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
Genetic Services Laboratory, University of Chicago RCV000117323 SCV000151504 likely benign not specified no assertion criteria provided clinical testing Likely benign based on allele frequency in 1000 Genomes Project or ESP global frequency and its presence in a patient with a rare or unrelated disease phenotype. NOT Sanger confirmed.
PreventionGenetics, part of Exact Sciences RCV004549583 SCV004744277 likely benign KCNMA1-related disorder 2024-06-20 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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