ClinVar Miner

Submissions for variant NM_005257.6(GATA6):c.502G>A (p.Gly168Ser)

gnomAD frequency: 0.00002  dbSNP: rs774639835
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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 RCV001915055 SCV002177317 uncertain significance Atrioventricular septal defect 5 2023-04-07 criteria provided, single submitter clinical testing This variant has not been reported in the literature in individuals affected with GATA6-related conditions. This sequence change replaces glycine, which is neutral and non-polar, with serine, which is neutral and polar, at codon 168 of the GATA6 protein (p.Gly168Ser). This variant is present in population databases (rs774639835, gnomAD 0.004%). ClinVar contains an entry for this variant (Variation ID: 1398435). 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. 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.
Revvity Omics, Revvity RCV003134211 SCV003808635 uncertain significance not provided 2021-08-10 criteria provided, single submitter clinical testing

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