Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000817742 | SCV000958323 | uncertain significance | Dyskeratosis congenita, autosomal dominant 1 | 2022-12-04 | 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 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. 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). ClinVar contains an entry for this variant (Variation ID: 660529). This variant has not been reported in the literature in individuals affected with TERC-related conditions. This variant is present in population databases (rs747522689, gnomAD 0.01%). This variant occurs in the TERC gene, which encodes an RNA molecule that does not result in a protein product. |