ClinVar Miner

Submissions for variant NM_005257.6(GATA6):c.61G>T (p.Ala21Ser)

gnomAD frequency: 0.00001  dbSNP: rs752129361
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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 RCV002025858 SCV002291505 uncertain significance Atrioventricular septal defect 5 2023-05-13 criteria provided, single submitter clinical testing This sequence change replaces alanine, which is neutral and non-polar, with serine, which is neutral and polar, at codon 21 of the GATA6 protein (p.Ala21Ser). 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: 1503989). This variant has not been reported in the literature in individuals affected with GATA6-related conditions. The frequency data for this variant in the population databases is considered unreliable, as metrics indicate poor data quality at this position in the gnomAD database.

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