Total submissions: 2
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Department of Medical Genomics, |
RCV002266550 | SCV002547462 | uncertain significance | Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 1 | 2022-07-14 | criteria provided, single submitter | clinical testing | This Leu987Val variant is found in a patient diagnosed with pulmonary fibrosis, confirmed on lung function test and imaging. There is a family history of pulmonary fibrosis, with no genetic confirmation. The variant is absent from control population. In silico studies did not suggest the variant to be damaging (REVEL 0.275). However the variant is located within an essential region of the C-terminal extension domain (Banik PMID: 12167716). Missense variants in TERT have been associated with familial pulmonary fibrosis (gnomAD missense Z score 4.88). The current evidence classifiies this variant as a variant of uncertain significance (ACMG criteria: PM2_supporting, PP2). |
| Ambry Genetics | RCV004558914 | SCV002749108 | uncertain significance | Dyskeratosis congenita | 2022-06-21 | criteria provided, single submitter | clinical testing | The p.L987V variant (also known as c.2959C>G), located in coding exon 12 of the TERT gene, results from a C to G substitution at nucleotide position 2959. The leucine at codon 987 is replaced by valine, an amino acid with highly similar properties. This amino acid position is conserved. In addition, this alteration is predicted to be tolerated by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear. |