ClinVar Miner

Submissions for variant NM_001308093.3(GATA4):c.854G>A (p.Arg285His)

dbSNP: rs2130313276
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001949586 SCV002247470 pathogenic Atrioventricular septal defect 4 2023-06-27 criteria provided, single submitter clinical testing This missense change has been observed in individual(s) with atrial septal defect (PMID: 26014430, 30455927). It has also been observed to segregate with disease in related individuals. 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. ClinVar contains an entry for this variant (Variation ID: 1458733). This variant is not present in population databases (gnomAD no frequency). This sequence change replaces arginine, which is basic and polar, with histidine, which is basic and polar, at codon 284 of the GATA4 protein (p.Arg284His).

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