ClinVar Miner

Submissions for variant NM_005257.6(GATA6):c.1515T>G (p.Ser505=)

dbSNP: rs770405157
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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 RCV000546492 SCV000652195 uncertain significance Atrioventricular septal defect 5 2022-05-18 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. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant is not likely to affect RNA splicing. ClinVar contains an entry for this variant (Variation ID: 472912). This variant has not been reported in the literature in individuals affected with GATA6-related conditions. This variant is present in population databases (rs770405157, gnomAD 0.003%). This sequence change affects codon 505 of the GATA6 mRNA. It is a 'silent' change, meaning that it does not change the encoded amino acid sequence of the GATA6 protein. It affects a nucleotide within the consensus splice site.

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