ClinVar Miner

Submissions for variant NM_005257.6(GATA6):c.1066A>C (p.Thr356Pro)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV003092841 SCV003482998 uncertain significance Atrioventricular septal defect 5 2022-10-05 criteria provided, single submitter clinical testing 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. 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 GATA6 protein function. This variant has not been reported in the literature in individuals affected with GATA6-related conditions. This variant is present in population databases (no rsID available, gnomAD 0.01%). This sequence change replaces threonine, which is neutral and polar, with proline, which is neutral and non-polar, at codon 356 of the GATA6 protein (p.Thr356Pro).

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