ClinVar Miner

Submissions for variant NM_000744.7(CHRNA4):c.254C>T (p.Thr85Met)

gnomAD frequency: 0.00002  dbSNP: rs199699339
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics RCV000444554 SCV000511293 uncertain significance not provided 2016-04-22 criteria provided, single submitter clinical testing Converted during submission to Uncertain significance.
Invitae RCV000654309 SCV000776199 likely benign Autosomal dominant nocturnal frontal lobe epilepsy 2024-01-10 criteria provided, single submitter clinical testing
GeneDx RCV000444554 SCV001796715 uncertain significance not provided 2020-09-02 criteria provided, single submitter clinical testing Not observed at a significant frequency in large population cohorts (Lek et al., 2016); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Has not been previously published as pathogenic or benign to our knowledge

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