ClinVar Miner

Submissions for variant NM_005257.6(GATA6):c.1089G>T (p.Gln363His)

dbSNP: rs1253142325
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000538974 SCV000652192 uncertain significance Atrioventricular septal defect 5 2017-02-06 criteria provided, single submitter clinical testing This sequence change replaces glutamine with histidine at codon 363 of the GATA6 protein (p.Gln363His). The glutamine residue is moderately conserved and there is a small physicochemical difference between glutamine and histidine. While this variant is not present in population databases (ExAC no frequency), the frequency information is unreliable, as metrics indicate poor data quality at this position in the ExAC database. This variant has not been reported in the literature in individuals with a GATA6-related disease. Algorithms developed to predict the effect of missense changes on protein structure and function do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). In summary, this variant is a novel missense change with uncertain impact on protein function. It has been classified as a Variant of Uncertain Significance.
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein RCV003139852 SCV003807559 uncertain significance Atrial septal defect 9 2022-07-07 criteria provided, single submitter clinical testing ACMG classification criteria: PM2 moderated, PP3 supporting

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