ClinVar Miner

Submissions for variant NM_001161352.2(KCNMA1):c.1218A>G (p.Gly406=)

gnomAD frequency: 0.00006  dbSNP: rs755284666
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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) RCV000593456 SCV000708969 uncertain significance not provided 2017-05-26 criteria provided, single submitter clinical testing
Invitae RCV000639906 SCV000761492 likely benign Generalized epilepsy-paroxysmal dyskinesia syndrome 2023-12-04 criteria provided, single submitter clinical testing
GeneDx RCV000593456 SCV004168446 uncertain significance not provided 2023-04-19 criteria provided, single submitter clinical testing Has not been previously published as pathogenic or benign to our knowledge; In silico analysis is inconclusive as to whether the variant alters gene splicing. In the absence of RNA/functional studies, the actual effect of this sequence change is unknown.

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