ClinVar Miner

Submissions for variant NM_001308093.3(GATA4):c.357CGC[5] (p.Ala126dup)

dbSNP: rs1182566703
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001370874 SCV001567418 uncertain significance Atrioventricular septal defect 4 2024-12-25 criteria provided, single submitter clinical testing This variant, c.366_368dup, results in the insertion of 1 amino acid(s) of the GATA4 protein (p.Ala126dup), but otherwise preserves the integrity of the reading frame. This variant is not present in population databases (gnomAD no frequency). This variant has been observed in individual(s) with tetralogy of fallot (PMID: 18672102). ClinVar contains an entry for this variant (Variation ID: 30104). Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.
GeneDx RCV002225269 SCV002504125 likely benign not provided 2019-11-04 criteria provided, single submitter clinical testing See Variant Classification Assertion Criteria.
Ambry Genetics RCV002453267 SCV002613487 uncertain significance Cardiovascular phenotype 2018-06-20 criteria provided, single submitter clinical testing The c.366_368dupCGC variant (also known as p.A126dup), located in coding exon 1 of the GATA4 gene, results from an in-frame duplication of CGC at nucleotide positions 366 to 368. This results in the duplication of an extra alanine residue between codons 126 and 127. This variant (reported as 118-119insA) has been detected in a congenital heart defect cohort, but also in controls (Zhang W et al. Eur J Med Genet Jul;51:527-35). Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
Baylor Genetics RCV003333000 SCV004041285 uncertain significance Testicular anomalies with or without congenital heart disease 2023-04-23 criteria provided, single submitter clinical testing
OMIM RCV000023009 SCV000044300 pathogenic Tetralogy of Fallot 2008-11-01 no assertion criteria provided literature only

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