Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV001771391 | SCV002002627 | uncertain significance | not provided | 2022-10-31 | criteria provided, single submitter | clinical testing | Has not been previously published as pathogenic or benign to our knowledge; In silico analysis supports that this variant does not alter splicing |
Fulgent Genetics, |
RCV002488595 | SCV002781168 | uncertain significance | Atrial septal defect 2; Tetralogy of Fallot; Ventricular septal defect 1; Atrioventricular septal defect 4; Testicular anomalies with or without congenital heart disease | 2021-07-12 | criteria provided, single submitter | clinical testing | |
Invitae | RCV002540543 | SCV003278928 | uncertain significance | Atrioventricular septal defect 4 | 2023-09-03 | 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. Variants that disrupt the consensus splice site are a relatively common cause of aberrant splicing (PMID: 17576681, 9536098). 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: 1314160). This variant has not been reported in the literature in individuals affected with GATA4-related conditions. This variant is present in population databases (rs751950851, gnomAD 0.008%). This sequence change affects codon 382 of the GATA4 mRNA. It is a 'silent' change, meaning that it does not change the encoded amino acid sequence of the GATA4 protein. This variant also falls at the last nucleotide of exon 6, which is part of the consensus splice site for this exon. |