Submissions for variant NM_021167.5(GATAD1):c.558G>A (p.Thr186=)

gnomAD frequency: 0.00008  dbSNP: rs141932124

Total submissions: 8

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000039057	SCV000062735	benign	not specified	2015-04-01	criteria provided, single submitter	clinical testing	p.Thr186Thr in exon 4 of GATAD1: This variant is not expected to have clinical s ignificance because it has been identified in 2.6% (438/16512) of South Asian ch romosomes, including 16 homozygotes, by the Exome Aggregation Consortium (ExAC, http://exac.broadinstitute.org; dbSNP rs141932124).
Eurofins Ntd Llc (ga)	RCV000039057	SCV000230392	benign	not specified	2015-02-05	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV000243656	SCV000319642	likely benign	Cardiovascular phenotype	2015-06-10	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.
GeneDx	RCV001530053	SCV000513117	benign	not provided	2018-12-31	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV000458232	SCV000562699	benign	Dilated cardiomyopathy 2B	2025-01-21	criteria provided, single submitter	clinical testing
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen	RCV001530053	SCV001744595	likely benign	not provided		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV000039057	SCV001966026	benign	not specified		no assertion criteria provided	clinical testing
PreventionGenetics, part of Exact Sciences	RCV004758619	SCV005349265	benign	GATAD1-related disorder	2024-08-11	no assertion criteria provided	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).