Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Genetics Service Unit, |
RCV000722147 | SCV000853230 | pathogenic | beta Thalassemia | 2018-11-22 | criteria provided, single submitter | clinical testing | NM_000518.5 (HBB) :c.164_168delTTATGinsGGCATCA was identified in trans with the known pathogenic NM_000518.5 (HBB):c.92+1G>C mutation in a child with HPLC diagnosis of Beta Thalassaemia major. NM_000518.5 (HBB) :c.164_168delTTATGinsGGCATCA mutation was predicted to be pathogenic by Mutation Taster (V55Gfs*8). No data available for this variant in gnomAD Exomes, gnomAD Genomes and ISB Kaviar3. No data available for this variant in ICGC Somatic, Sanger Cosmic, CIViC, IARC TP53 Somatic and IARC TP53 Germline. In summary the NM_000518.5 (HBB) :c.164_168delTTATGinsGGCATCA variant meets the ACMG criteria to be classified as pathogenic (PVS1; PM2; PM3) based on segregation studies, absence from control and predicted truncated protein product. |