Total submissions: 4
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Invitae | RCV000798672 | SCV000938298 | uncertain significance | Atrioventricular septal defect 4 | 2023-09-17 | 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 disruptive. ClinVar contains an entry for this variant (Variation ID: 644697). This variant has not been reported in the literature in individuals affected with GATA4-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. This sequence change replaces glycine, which is neutral and non-polar, with arginine, which is basic and polar, at codon 12 of the GATA4 protein (p.Gly12Arg). |
| Gene |
RCV001759516 | SCV001995729 | uncertain significance | not provided | 2019-09-11 | criteria provided, single submitter | clinical testing | Has not been previously published as pathogenic or benign to our knowledge; Not observed at a significant frequency in large population cohorts (Lek et al., 2016); In silico analysis, which includes protein predictors and evolutionary conservation, supports a deleterious effect |
| Centre de Biologie Pathologie Génétique, |
RCV001251996 | SCV001427742 | likely benign | Intellectual disability | 2019-01-01 | no assertion criteria provided | clinical testing | |
| Institute of Molecular Biology and Genetics, |
RCV001293778 | SCV001482443 | pathogenic | Testicular anomalies with or without congenital heart disease | 2021-03-03 | no assertion criteria provided | clinical testing |