Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001214506 | SCV001386189 | pathogenic | Dyskeratosis congenita, autosomal dominant 1 | 2023-02-20 | 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 not present in population databases (gnomAD no frequency). This variant has been observed in individual(s) with personal and family history of dyskeratosis congenita, aplastic anemia, and pulmonary fibrosis (PMID: 15098033, 17640862, 22341970, 25612863). ClinVar contains an entry for this variant (Variation ID: 7325). Algorithms developed to predict the effect of variants on protein structure and function are not available or were not evaluated for this variant. Experimental studies have shown that this variant affects TERC RNA function (PMID: 15319288, 17640862, 20022961). 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). 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. For these reasons, this variant has been classified as Pathogenic. |
OMIM | RCV000007749 | SCV000027950 | pathogenic | Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 2 | 2002-06-22 | no assertion criteria provided | literature only | |
Gene |
RCV000032556 | SCV000056228 | pathologic | Aplastic anemia | 2012-05-10 | no assertion criteria provided | curation | Converted during submission to Pathogenic. |