ClinVar Miner

Submissions for variant NM_000748.3(CHRNB2):c.1372A>G (p.Ile458Val)

dbSNP: rs751272610
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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 RCV001474669 SCV001678843 likely benign Autosomal dominant nocturnal frontal lobe epilepsy 2024-03-13 criteria provided, single submitter clinical testing
GeneDx RCV004588149 SCV005081490 uncertain significance not provided 2023-08-07 criteria provided, single submitter clinical testing Not observed at significant frequency in large population cohorts (gnomAD); 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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