ClinVar Miner

Submissions for variant NM_005257.6(GATA6):c.259C>T (p.Pro87Ser)

gnomAD frequency: 0.00010  dbSNP: rs563978220
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001758545 SCV001995503 uncertain significance not provided 2019-12-10 criteria provided, single submitter clinical testing Has not been previously published as pathogenic or benign to our knowledge; In silico analysis, which includes protein predictors and evolutionary conservation, supports that this variant does not alter protein structure/function
Invitae RCV001868502 SCV002296181 uncertain significance Atrioventricular septal defect 5 2023-07-10 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. An algorithm developed to predict the effect of missense changes on protein structure and function (PolyPhen-2) suggests that this variant is likely to be tolerated. ClinVar contains an entry for this variant (Variation ID: 1311036). This variant has not been reported in the literature in individuals affected with GATA6-related conditions. This variant is present in population databases (rs563978220, gnomAD 0.06%), and has an allele count higher than expected for a pathogenic variant. This sequence change replaces proline, which is neutral and non-polar, with serine, which is neutral and polar, at codon 87 of the GATA6 protein (p.Pro87Ser).
Fulgent Genetics, Fulgent Genetics RCV002503217 SCV002806798 uncertain significance Conotruncal heart malformations; Pancreatic hypoplasia-diabetes-congenital heart disease syndrome; Tetralogy of Fallot; Atrioventricular septal defect 5; Atrial septal defect 9 2021-12-22 criteria provided, single submitter clinical testing

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