ClinVar Miner

Submissions for variant NM_001308093.3(GATA4):c.142G>A (p.Val48Met)

dbSNP: rs773581495
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV005094206 SCV005820253 uncertain significance Atrioventricular septal defect 4 2024-12-15 criteria provided, single submitter clinical testing This sequence change replaces valine, which is neutral and non-polar, with methionine, which is neutral and non-polar, at codon 48 of the GATA4 protein (p.Val48Met). The frequency data for this variant in the population databases is considered unreliable, as metrics indicate poor data quality at this position in the gnomAD database. This missense change has been observed in individual(s) with clinical features of Brugada syndrome (PMID: 33974263). ClinVar contains an entry for this variant (Variation ID: 975396). Invitae Evidence Modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) indicates that this missense variant is not expected to disrupt GATA4 protein function with a negative predictive value of 95%. 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.
Centre de Biologie Pathologie Génétique, Centre Hospitalier Universitaire de Lille RCV001251997 SCV001427743 likely benign Intellectual disability 2019-01-01 no assertion criteria provided clinical testing

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