ClinVar Miner

Submissions for variant NM_000742.4(CHRNA2):c.215G>A (p.Arg72His)

dbSNP: rs201922955
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000796229 SCV000935734 likely benign Autosomal dominant nocturnal frontal lobe epilepsy 2023-02-14 criteria provided, single submitter clinical testing
GeneDx RCV001766640 SCV001998004 uncertain significance not provided 2019-10-15 criteria provided, single submitter clinical testing In silico analysis, which includes protein predictors and evolutionary conservation, supports a deleterious effect; Has not been previously published as pathogenic or benign to our knowledge; This amino acid substitution is not predicted to occur within the transmembrane region of the protein, where the vast majority of pathogenic missense variants have been identified in association with epilepsy (Steinlein et al., 2010).
PreventionGenetics, part of Exact Sciences RCV003965590 SCV004782072 uncertain significance CHRNA2-related condition 2024-02-02 criteria provided, single submitter clinical testing The CHRNA2 c.215G>A variant is predicted to result in the amino acid substitution p.Arg72His. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.0080% of alleles in individuals of African descent in gnomAD. At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence.

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