ClinVar Miner

Submissions for variant NM_005257.6(GATA6):c.589A>G (p.Met197Val)

dbSNP: rs1245355073
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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 RCV001981614 SCV002222582 uncertain significance Atrioventricular septal defect 5 2021-07-21 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 methionine with valine at codon 197 of the GATA6 protein (p.Met197Val). The methionine residue is moderately conserved and there is a small physicochemical difference between methionine and valine. The frequency data for this variant in the population databases is considered unreliable, as metrics indicate insufficient coverage at this position in the ExAC database. Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated. 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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