ClinVar Miner

Submissions for variant NM_000891.3(KCNJ2):c.637C>T (p.Arg213Ter)

gnomAD frequency: 0.00001  dbSNP: rs764523123
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV002034781 SCV002107192 uncertain significance not provided 2023-03-23 criteria provided, single submitter clinical testing Not observed at significant frequency in large population cohorts (gnomAD); Nonsense variant predicted to result in protein truncation or nonsense mediated decay in a gene or region of a gene for which loss of function is not a well-established mechanism of disease; Has not been previously published as pathogenic or benign to our knowledge
Department of Neurology and Geriatrics, Kagoshima University Graduate School of Medical and Dental Sciences RCV002305625 SCV002600032 likely pathogenic Andersen Tawil syndrome 2022-04-12 no assertion criteria provided research

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