Total submissions: 2
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Institute of Human Genetics, |
RCV001174536 | SCV001286698 | uncertain significance | Syndromic X-linked intellectual disability 14 | 2020-05-25 | criteria provided, single submitter | clinical testing | The c.717_719delAGA UPF3B-variant (p.(Glu240del)) is not found in known databases (ExAC or gnomAD) and leads to a protein length change as a result of an in-frame deletion in a nonrepeat region. Segregation analysis revealed that the unaffected mother was carrying the variant as our affected male patient. Because syndromic, UPF3B-associated X-linked mental retardation, type 14, is linked to a X-linked recessive inheritance pattern, and female carriers are usually clinically asymptomatic, the clinical relevance of the above mentioned variant cannot be conclusively assessed at present. ACMG criteria used for classification: PM2, PM4. |
| Labcorp Genetics |
RCV001174536 | SCV004250011 | uncertain significance | Syndromic X-linked intellectual disability 14 | 2023-12-02 | criteria provided, single submitter | clinical testing | This variant, c.717_719del, results in the deletion of 1 amino acid(s) of the UPF3B protein (p.Glu240del), but otherwise preserves the integrity of the reading frame. This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with UPF3B-related conditions. Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. |