Submissions for variant NM_001006630.2(CHRM2):c.773A>G (p.Asn258Ser)

gnomAD frequency: 0.00128  dbSNP: rs142006633

Total submissions: 5

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000222492	SCV000270062	likely benign	not specified	2015-06-24	criteria provided, single submitter	clinical testing	p.Asn258Ser in exon 5 of CHRM2: This variant is not expected to have clinical si gnificance because of its population frequency and lack of evolutionary conserva tion. It is present in 0.2% (135/66208) of European chromosomes screened by the Exome Aggregation Consortium (ExAC, http://exac.broadinstitute.org; dbSNP rs1420 06633). Two mammals and >10 bird, reptile and fish species carrying a serine (Se r) at position 258, supporting that this change may be tolerated.
GeneDx	RCV000222492	SCV000531706	benign	not specified	2018-02-13	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	RCV000543439	SCV000659700	benign	Dilated Cardiomyopathy, Dominant	2025-01-22	criteria provided, single submitter	clinical testing
Breakthrough Genomics, Breakthrough Genomics	RCV004705045	SCV005226804	likely benign	not provided		criteria provided, single submitter	not provided
PreventionGenetics, part of Exact Sciences	RCV003929885	SCV004745871	likely benign	CHRM2-related disorder	2021-04-07	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).