ClinVar Miner

Submissions for variant NM_000744.7(CHRNA4):c.1645C>T (p.Arg549Cys)

gnomAD frequency: 0.00010  dbSNP: rs367658654
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000186914 SCV000240485 likely benign not specified 2013-11-18 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Invitae RCV000870079 SCV001011551 likely benign Autosomal dominant nocturnal frontal lobe epilepsy 2023-10-22 criteria provided, single submitter clinical testing

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