Submissions for variant NM_000742.4(CHRNA2):c.1437C>T (p.His479=)

gnomAD frequency: 0.00025  dbSNP: rs374849310

Total submissions: 4

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV000431796	SCV000512603	likely benign	not specified	2016-07-25	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.
Labcorp Genetics (formerly Invitae), Labcorp	RCV000869702	SCV001011149	benign	Autosomal dominant nocturnal frontal lobe epilepsy	2024-10-10	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002392950	SCV002702862	likely benign	Inborn genetic diseases	2017-06-13	criteria provided, single submitter	clinical testing	This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
PreventionGenetics, part of Exact Sciences	RCV003972571	SCV004792013	likely benign	CHRNA2-related disorder	2019-04-05	no assertion criteria provided	clinical testing	This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).