Total submissions: 2
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Invitae | RCV001853051 | SCV002167600 | likely pathogenic | not provided | 2022-08-16 | criteria provided, single submitter | clinical testing | 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 currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as Likely Pathogenic. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. ClinVar contains an entry for this variant (Variation ID: 56397). This premature translational stop signal has been observed in individual(s) with Nasu-Hakola disease (PMID: 17125796). In at least one individual the data is consistent with being in trans (on the opposite chromosome) from a pathogenic variant. This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Glu88*) in the TYROBP gene. While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 26 amino acid(s) of the TYROBP protein. |
| Juha Muilu Group; Institute for Molecular Medicine Finland |
RCV000049810 | SCV000082219 | probable-pathogenic | Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 1 | no assertion criteria provided | not provided | Converted during submission to Likely pathogenic. |