ClinVar Miner

Submissions for variant NM_001308093.3(GATA4):c.1088G>A (p.Arg363His)

gnomAD frequency: 0.00001  dbSNP: rs139893755
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001232218 SCV001404766 likely benign Atrioventricular septal defect 4 2024-12-02 criteria provided, single submitter clinical testing
Ambry Genetics RCV004033158 SCV003534669 uncertain significance Cardiovascular phenotype 2021-11-22 criteria provided, single submitter clinical testing The c.1085G>A (p.R362H) alteration is located in exon 6 (coding exon 5) of the GATA4 gene. This alteration results from a G to A substitution at nucleotide position 1085, causing the arginine (R) at amino acid position 362 to be replaced by a histidine (H). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
GeneDx RCV003442793 SCV004168306 uncertain significance not provided 2023-05-01 criteria provided, single submitter clinical testing Has not been previously published as pathogenic or benign to our knowledge; In silico analysis supports that this missense variant does not alter protein structure/function

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