ClinVar Miner

Submissions for variant NM_001308093.3(GATA4):c.1078G>A (p.Glu360Lys)

gnomAD frequency: 0.00002  dbSNP: rs368489876
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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 RCV001852005 SCV002172473 uncertain significance Atrioventricular septal defect 4 2024-05-22 criteria provided, single submitter clinical testing This sequence change replaces glutamic acid, which is acidic and polar, with lysine, which is basic and polar, at codon 359 of the GATA4 protein (p.Glu359Lys). This variant is present in population databases (rs368489876, gnomAD 0.01%). This missense change has been observed in individual(s) with congenital heart defects (PMID: 18672102, 21631294). ClinVar contains an entry for this variant (Variation ID: 30101). Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is not expected to disrupt GATA4 protein function with a negative predictive value of 80%. 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.
Laan Lab, Human Genetics Research Group, University of Tartu RCV003991570 SCV004239147 likely pathogenic Male infertility with azoospermia or oligozoospermia due to single gene mutation 2023-09-01 criteria provided, single submitter research
OMIM RCV000023006 SCV000044297 pathogenic Ventricular septal defect 1 2008-11-01 no assertion criteria provided literature only

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