Total submissions: 2
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Center for Medical Genetics, |
RCV000853065 | SCV000897718 | likely pathogenic | Leukocyte adhesion deficiency 1 | 2017-03-16 | criteria provided, single submitter | clinical testing | The c.322C>T (p.Arg108Ter) variation in the ITGB2 gene has been reported in (Madkaikar et.al, 2015). This article explains about a study that was conducted to identify the molecular defects underlying LAD-I in Indian patients and to correlate these with the clinical presentations. Of the 30 patients that were studied, 9 novel mutations were found in 9 different individuals and the Arg108Ter variant is one among them. Based on this citation, the variant has been classified as likely pathogenic. The patient couple in this case study were married consanguineously. They had two affected children who passed away within one year of birth. They were both found to be unaffected heterozygous carriers of this variant. The children had been diagnosed with LAD but no genetic testing was done to confirm the diagnosis. |
| Invitae | RCV000853065 | SCV001412177 | pathogenic | Leukocyte adhesion deficiency 1 | 2021-08-28 | criteria provided, single submitter | clinical testing | This sequence change creates a premature translational stop signal (p.Arg108*) in the ITGB2 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in ITGB2 are known to be pathogenic (PMID: 22134107, 25703682). This variant is not present in population databases (ExAC no frequency). This premature translational stop signal has been observed in individuals with leukocyte adhesion deficiency type 1 (PMID: 25703682; Invitae). For these reasons, this variant has been classified as Pathogenic. |