ClinVar Miner

Submissions for variant NM_000518.5(HBB):c.164_168delinsGGCATCA (p.Val55fs)

dbSNP: rs1564875331
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 1
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetics Service Unit, National Institute of Biomedical Genomics 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.

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.