Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV001009020 | SCV001168830 | likely pathogenic | not provided | 2018-09-14 | criteria provided, single submitter | clinical testing | A variant that is likely pathogenic has been identified in the GATA3 gene. The c.1130_1139dup10 variant has not been published as a pathogenic variant, nor has it been reported as a benign variant to our knowledge. The c.1130_1139dup10 variant causes a frameshift starting with codon Histidine 380, changes this amino acid to a Glutamine residue and creates a premature Stop codon at position 5 of the new reading frame, denoted p.His380GlnfsX5. This variant is predicted to cause loss of normal protein function as the last 65 amino acids of the GATA3 protein are replaced with 4 incorrect amino acids. The c.1130_1139dup10 variant is not observed in large population cohorts (Lek et al., 2016). Therefore, this variant is likely pathogenic; however, the possibility that it is benign cannot be excluded. |