Submissions for variant NM_001308093.3(GATA4):c.1141G>A (p.Val381Met)

gnomAD frequency: 0.01121  dbSNP: rs114868912

Total submissions: 7

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics	RCV000422307	SCV000511434	benign	not provided	2016-09-20	criteria provided, single submitter	clinical testing
Invitae	RCV001086650	SCV000554422	benign	Atrioventricular septal defect 4	2024-01-31	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV000617802	SCV000735420	benign	Cardiovascular phenotype	2016-06-17	criteria provided, single submitter	clinical testing	This alteration is classified as 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	RCV000422307	SCV001856671	benign	not provided	2019-10-07	criteria provided, single submitter	clinical testing	This variant is associated with the following publications: (PMID: 31513339, 28511407, 26997702, 30766556, 31115957, 26490186, 19678963, 28843068, 18055909, 17352393, 28372585, 16604480, 20981092, 21631294, 22995991, 22011241, 28161810, 21276881)
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV000422307	SCV002050001	benign	not provided	2021-09-23	criteria provided, single submitter	clinical testing
Clinical Genomics, Uppaluri K&H Personalized Medicine Clinic	RCV002463677	SCV002605215	likely benign	Neonatal insulin-dependent diabetes mellitus		criteria provided, single submitter	research	Potent mutations in GATA4 gene are associated with neonatal diabetes, decreased insulin production due to pancreatic aplasia or hypoplasia. Also associated with isolated cardiac abnormalities in children, like atrial septal defects. However no sufficient evidence is found to ascertain the role of this particular variant rs114868912 yet.
PreventionGenetics, part of Exact Sciences	RCV004022275	SCV004746303	benign	GATA4-related disorder	2019-08-13	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).