Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000519899 | SCV000618578 | pathogenic | not provided | 2017-06-26 | criteria provided, single submitter | clinical testing | The c.1196delA variant in the GATAD2B gene has not been reported previously as a pathogenic variant nor as a benign variant, to our knowledge. The c.1196delA variant causes a frameshift starting with codon Glutamine 399, changes this amino acid to an Arginine residue, and creates a premature Stop codon at position 47 of the new reading frame, denoted p.Gln399ArgfsX47. This variant is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. The c.1196delA variant is not observed in large population cohorts (Lek et al., 2016; 1000 Genomes Consortium et al., 2015; Exome Variant Server). We interpret c.1196delA as a pathogenic variant |
Genome |
RCV000709796 | SCV000840121 | not provided | GATAD2B-Related Disorder | no assertion provided | phenotyping only | GenomeConnect assertions are reported exactly as they appear on the patient-provided report from the testing laboratory. GenomeConnect staff make no attempt to reinterpret the clinical significance of the variant. |