Submissions for variant NM_005477.3(HCN4):c.2601C>A (p.Ala867=)

gnomAD frequency: 0.00352  dbSNP: rs143188160

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000180275	SCV000232675	benign	not specified	2014-11-25	criteria provided, single submitter	clinical testing
Invitae	RCV001084605	SCV000288903	benign	Brugada syndrome 8	2024-02-01	criteria provided, single submitter	clinical testing
GeneDx	RCV000180275	SCV000513216	benign	not specified	2015-11-04	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.
Ambry Genetics	RCV000618904	SCV000735701	benign	Cardiovascular phenotype	2016-08-29	criteria provided, single submitter	clinical testing	This alteration is classified as benign based on a combination of the following: 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.
Athena Diagnostics Inc	RCV000711886	SCV000842297	benign	not provided	2018-02-06	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV003917678	SCV004729524	benign	HCN4-related condition	2019-06-28	criteria provided, single submitter	clinical testing	This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).