ClinVar Miner

Submissions for variant NM_005257.6(GATA6):c.86C>A (p.Ala29Glu)

dbSNP: rs1185015412
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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 RCV001950049 SCV002202399 uncertain significance Atrioventricular septal defect 5 2022-11-15 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. Experimental studies have shown that this missense change does not substantially affect GATA6 function (PMID: 29101065). 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. ClinVar contains an entry for this variant (Variation ID: 1429267). This missense change has been observed in individual(s) with transposition of the great arteries (PMID: 29101065). This variant is not present in population databases (gnomAD no frequency). This sequence change replaces alanine, which is neutral and non-polar, with glutamic acid, which is acidic and polar, at codon 29 of the GATA6 protein (p.Ala29Glu).

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