Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular Medicine, |
RCV000607452 | SCV000713778 | likely pathogenic | Dyskeratosis congenita; Diffuse interstitial pulmonary fibrosis | 2017-12-06 | criteria provided, single submitter | clinical testing | The TERT exon 3 deletion has not been previously reported in individuals with pu lmonary fibrosis. A deletion overlapping this region has been reported in 1 indi vidual in the database of genomic variation, though the phenotype status of this individual is unclear (DGV; http://dgv.tcag.ca/gb2/gbrowse/dgv2_hg19/). Please note that for diseases with clinical variability or reduced penetrance, pathogen ic variants may be present at a low frequency in the general population. A delet ion of exon 3 of the TERT gene is expected to result in an out of frame or absen t protein. Loss-of-function of TERT is known to be associated with telomere shor tening syndromes, including pulmonary fibrosis, aplastic anemia, and dyskeratosi s congenita. In summary, although additional studies are required to fully estab lish its clinical significance, this variant is likely pathogenic. |