Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000801830 | SCV000941627 | uncertain significance | Dyskeratosis congenita, autosomal dominant 1 | 2023-08-04 | criteria provided, single submitter | clinical testing | Experimental studies are conflicting or provide insufficient evidence to determine the effect of this variant on TERC function (PMID: 21931702). 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 Hoyeraal Hreidarrson syndrome (PMID: 21931702). ClinVar contains an entry for this variant (Variation ID: 647341). Algorithms developed to predict the effect of variants on protein structure and function are not available or were not evaluated for this variant. This variant is located within the hypervariable region that is not conserved in the TERC RNA component (PMID: 10721988, 21844345). The functional significance of this region is not well understood. 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. |