ClinVar Miner

Submissions for variant NM_005257.6(GATA6):c.902C>A (p.Ala301Glu)

dbSNP: rs2033058989
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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 RCV001302907 SCV001492134 uncertain significance Atrioventricular septal defect 5 2023-05-09 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 alanine, which is neutral and non-polar, with glutamic acid, which is acidic and polar, at codon 301 of the GATA6 protein (p.Ala301Glu). The frequency data for this variant in the population databases is considered unreliable, as metrics indicate insufficient coverage at this position in the gnomAD database. ClinVar contains an entry for this variant (Variation ID: 1005949). 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.

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