Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000807117 | SCV000947154 | uncertain significance | Dyskeratosis congenita, autosomal dominant 1 | 2021-08-31 | criteria provided, single submitter | clinical testing | 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. This variant is located within the template/pseudoknot domain of the TERC RNA component, which is required for RNA or RNP stability (PMID: 15082312, 21844345). Functional studies testing the effect of this variant on TERC secondary structure or function have not been reported. This variant has been observed in an individual affected with pulmonary fibrosis (PMID: 28192371). This variant is not present in population databases (ExAC no frequency). This sequence change occurs in the TERC gene, which encodes an RNA molecule that is not translated into a protein product. TERC is a telomerase RNA template component required for telomeric DNA synthesis. |
Garcia Pulmonary Genetics Research Laboratory, |
RCV002509547 | SCV002547435 | likely risk allele | Pulmonary fibrosis | 2022-06-09 | no assertion criteria provided | research | Leukocyte telomere length (by qPCR) less than 10th percentile age-adjusted |