Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Johns Hopkins Genomics, |
RCV001007599 | SCV001167280 | likely pathogenic | Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 1 | 2019-09-19 | criteria provided, single submitter | clinical testing | This TERT variant is absent from large population datasets and has not been reported in ClinVar nor the literature, to our knowledge. Two bioinformatic tools queried predict that this substitution would be tolerated, however the phenylalanine residue at this position is highly evolutionarily conserved across mammals. This variant is considered likely pathogenic. |