ClinVar Miner

Submissions for variant NM_001308093.3(GATA4):c.923C>G (p.Pro308Arg)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV003529790 SCV004316651 pathogenic Atrioventricular septal defect 4 2023-09-25 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. 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 expected to disrupt GATA4 protein function. This missense change has been observed in individual(s) with atrial septal defect (Invitae). In at least one individual the variant was observed to be de novo. This variant is not present in population databases (gnomAD no frequency). This sequence change replaces proline, which is neutral and non-polar, with arginine, which is basic and polar, at codon 307 of the GATA4 protein (p.Pro307Arg).

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