ClinVar Miner

Submissions for variant NM_001308093.3(GATA4):c.735C>T (p.Tyr245=)

gnomAD frequency: 0.00148  dbSNP: rs146696080
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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000155448 SCV000205139 benign not specified 2013-02-25 criteria provided, single submitter clinical testing proposed classification - variant undergoing re-assessment, contact laboratory
Ambry Genetics RCV000243682 SCV000320140 likely benign Cardiovascular phenotype 2015-10-23 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.
Labcorp Genetics (formerly Invitae), Labcorp RCV000464598 SCV000554423 benign Atrioventricular septal defect 4 2024-01-26 criteria provided, single submitter clinical testing
GeneDx RCV001582629 SCV001813938 likely benign not provided 2021-10-28 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 17352393)
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV001582629 SCV003799493 benign not provided 2022-03-31 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001582629 SCV005220539 likely benign not provided criteria provided, single submitter not provided
PreventionGenetics, part of Exact Sciences RCV004019861 SCV004742797 likely benign GATA4-related disorder 2019-04-25 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).

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