Total submissions: 1
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Invitae | RCV000796786 | SCV000936314 | pathogenic | not provided | 2019-12-24 | 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. |