Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000480534 | SCV000572741 | likely pathogenic | not provided | 2017-01-11 | criteria provided, single submitter | clinical testing | The c.157_162dupTCTGCC variant in the HBG2 gene has not been reported previously as a pathogenic variant nor as a benign variant, to our knowledge. The c.157_162dupTCTGCC variant causes an in-frame duplication of two amino acids (Serine and Alanine), denoted p.Ser53_Ala54dup. This variant was not observed in approximately 6500 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, indicating it is not a common benign variant in these populations. We interpret c.157_162dupTCTGCC as a likely pathogenic variant. |