ClinVar Miner

Submissions for variant NR_001566.3(TERC):n.95G>C

dbSNP: rs1777963668
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Johns Hopkins Genomics, Johns Hopkins University RCV001263470 SCV001441546 likely pathogenic Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 2 2020-10-29 criteria provided, single submitter clinical testing TERC n.95G>C has been reported in patients presenting with aplastic anemia and dyskeratosis congenita. This variant is absent from a large population dataset and has not been reported in ClinVar. It is located within the pseudoknot/template domain, which is an important region for telomerase RNA structure. A functional study demonstrated that this variant causes significantly decreased telomerase activity compared to wild-type. We consider this variant to be likely pathogenic.
Labcorp Genetics (formerly Invitae), Labcorp RCV001880061 SCV002267850 uncertain significance Dyskeratosis congenita, autosomal dominant 1 2021-01-25 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). A significant number of previously reported TERC mutations are found in this domain (PMID: 15082312, 21844345, 21931702). These observations suggest that this may be a clinically significant region of the protein. Studies have shown that this variant alters TERC gene expression (PMID: 26024875). This variant has been observed in individual(s) with dyskeratosis congenita (DC) (PMID: 26024875). ClinVar contains an entry for this variant (Variation ID: 983511). This variant is not present in population databases (ExAC no frequency). This variant occurs in the TERC gene, which encodes an RNA molecule that does not result in a protein product.
The Telomere Center at Johns Hopkins, Johns Hopkins University School of Medicine RCV003325411 SCV003840221 pathogenic Telomere syndrome 2022-08-01 no assertion criteria provided clinical testing

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