ClinVar Miner

Submissions for variant NM_000518.5(HBB):c.316-149_*132del (rs1589891039)

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
Invitae RCV000817298 SCV000957850 pathogenic not provided 2018-11-26 criteria provided, single submitter clinical testing This variant is a gross deletion of the genomic region encompassing a portion of intron 2 and the entire exon 3 of the HBB gene. The 5' boundary is confined to intron 2. The 3' end of this event extends through the termination codon and into the untranslated region of the HBB gene. While this deletion is not anticipated to result in nonsense mediated decay, it is expected to create a truncated protein product or disrupt mRNA translation. A similar exon 3 deletion, commonly known as the 619bp deletion, in the literature has been observed in many individuals affected with beta thalassemia and is considered a common founder mutation in the Indian population although it has been found in affected individuals from other populations (PMID: 2903765, 287080, 7162987, 2064964, 27812264). For these reasons, this variant has been classified as Pathogenic.

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.