ClinVar Miner

Submissions for variant NM_000744.7(CHRNA4):c.841G>A (p.Val281Met)

gnomAD frequency: 0.00001  dbSNP: rs764238999
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000819415 SCV000960072 likely benign Autosomal dominant nocturnal frontal lobe epilepsy 2023-11-27 criteria provided, single submitter clinical testing
GeneDx RCV002510988 SCV002820674 likely pathogenic not provided 2022-07-12 criteria provided, single submitter clinical testing Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; This variant is associated with the following publications: (PMID: 28135719, 31785789)

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