Submissions for variant NM_021167.5(GATAD1):c.762G>A (p.Gly254=)

gnomAD frequency: 0.00151  dbSNP: rs139637606

Total submissions: 11

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV000150716	SCV000168649	benign	not specified	2014-03-07	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.
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000150716	SCV000198134	benign	not specified	2012-03-19	criteria provided, single submitter	clinical testing	p.Gly254Gly in Exon 05 of GATAD1: This variant is not expected to have clinical significance because it does not alter an amino acid residue, is not located wit hin the splice consensus sequence and has been identified in 0.3% (24/7020) of E uropean American chromosomes from a broad population by the NHLBI Exome Sequenci ng Project (http://evs.gs.washington.edu/EVS; dbSNP rs139637606).
Eurofins Ntd Llc (ga)	RCV000150716	SCV000231165	likely benign	not specified	2014-10-17	criteria provided, single submitter	clinical testing
Invitae	RCV000233449	SCV000290584	benign	Dilated cardiomyopathy 2B	2024-01-28	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV000620934	SCV000735928	benign	Cardiovascular phenotype	2017-07-18	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.
Genome Diagnostics Laboratory, University Medical Center Utrecht	RCV000233449	SCV000743185	benign	Dilated cardiomyopathy 2B	2014-10-10	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV000858023	SCV001155134	likely benign	not provided	2022-10-01	criteria provided, single submitter	clinical testing	GATAD1: BP4, BP7
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV000233449	SCV002049254	likely benign	Dilated cardiomyopathy 2B	2021-03-02	criteria provided, single submitter	clinical testing
Fulgent Genetics, Fulgent Genetics	RCV000233449	SCV002807112	benign	Dilated cardiomyopathy 2B	2021-08-11	criteria provided, single submitter	clinical testing
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen	RCV000233449	SCV000734586	likely benign	Dilated cardiomyopathy 2B		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV000858023	SCV001972823	likely benign	not provided		no assertion criteria provided	clinical testing