Submissions for variant NM_005257.6(GATA6):c.1723G>C (p.Ala575Pro)

gnomAD frequency: 0.00039  dbSNP: rs149569288

Total submissions: 7

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Labcorp Genetics (formerly Invitae), Labcorp	RCV001085967	SCV000554396	likely benign	Atrioventricular septal defect 5	2024-12-08	criteria provided, single submitter	clinical testing
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics	RCV000514657	SCV000609833	likely benign	not provided	2017-03-10	criteria provided, single submitter	clinical testing
Personalized Diabetes Medicine Program, University of Maryland School of Medicine	RCV000664151	SCV000787603	likely benign	Monogenic diabetes	2017-12-21	criteria provided, single submitter	research	ACMG criteria: PP3 (6 predictors), BP4 (5 predictors), BS2 (139 hets in gnomAD)=Likely benign
Clinical Genomics, Uppaluri K&H Personalized Medicine Clinic	RCV003884550	SCV004698143	uncertain risk allele	Pancreatic hypoplasia-diabetes-congenital heart disease syndrome		criteria provided, single submitter	research	Potent mutations in GATA6 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 rs149569288 yet.
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC)	RCV000514657	SCV002036735	likely benign	not provided		no assertion criteria provided	clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+	RCV000514657	SCV002037459	likely benign	not provided		no assertion criteria provided	clinical testing
PreventionGenetics, part of Exact Sciences	RCV003925331	SCV004749016	likely benign	GATA6-related disorder	2022-05-02	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).