ClinVar Miner

Submissions for variant NM_001161352.2(KCNMA1):c.3704G>A (p.Arg1235Gln)

gnomAD frequency: 0.00004  dbSNP: rs75843969
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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 RCV000952351 SCV001098848 likely benign Generalized epilepsy-paroxysmal dyskinesia syndrome 2025-01-19 criteria provided, single submitter clinical testing
GeneDx RCV001664569 SCV001873883 uncertain significance not provided 2022-12-15 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge

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