Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000032573 | SCV000641100 | uncertain significance | Dyskeratosis congenita, autosomal dominant 1 | 2023-12-19 | criteria provided, single submitter | clinical testing | This variant occurs in the TERC gene, which encodes an RNA molecule that does not result in a protein product. This variant is present in population databases (rs199422261, gnomAD 0.009%). This variant has been observed in individual(s) with Idiopathic pulmonary fibrosis, aplastic anemia, and dyskeratosis congenita (PMID: 17460043, 20193600, 26136524). ClinVar contains an entry for this variant (Variation ID: 39293). 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). Experimental studies are conflicting or provide insufficient evidence to determine the effect of this variant on TERC function (PMID: 15886322, 17460043). This variant is located in a region of TERC in which a significant number of disease causing variants have been reported (PMID: 15082312, 21844345, 21931702). These observations suggest that this may be a clinically significant region. 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. |
Fulgent Genetics, |
RCV002482938 | SCV002793300 | uncertain significance | Dyskeratosis congenita, autosomal dominant 1; Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 2 | 2021-11-08 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000032573 | SCV000056245 | pathologic | Dyskeratosis congenita, autosomal dominant 1 | 2012-05-10 | no assertion criteria provided | curation | Converted during submission to Pathogenic. |
Garcia Pulmonary Genetics Research Laboratory, |
RCV002509180 | SCV002547433 | likely risk allele | Pulmonary fibrosis | 2022-06-09 | no assertion criteria provided | research | Leukocyte telomere length (by qPCR) less than 10th percentile age-adjusted |