ClinVar Miner

Submissions for variant NR_001566.1(TERC):n.202T>C

gnomAD frequency: 0.00001  dbSNP: rs1277188982
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000554157 SCV000641095 uncertain significance Dyskeratosis congenita, autosomal dominant 1 2023-01-19 criteria provided, single submitter clinical testing ClinVar contains an entry for this variant (Variation ID: 465765). 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 hypervariable region that is not conserved in the TERC RNA component (PMID: 10721988, 21844345). The functional significance of this region is not well understood. This variant has not been reported in the literature in individuals affected with TERC-related conditions. This variant is not present in population databases (gnomAD no frequency). This variant occurs in the TERC gene, which encodes an RNA molecule that does not result in a protein product.
PreventionGenetics, part of Exact Sciences RCV003392385 SCV004111836 uncertain significance TERC-related condition 2023-02-21 criteria provided, single submitter clinical testing The TERC n.202T>C is a noncoding alteration. To our knowledge, this variant has not been reported in the literature or in a large population database (http://gnomad.broadinstitute.org), indicating this variant is rare. This variant is interpreted as uncertain significance or likely risk allele in ClinVar (https://www.ncbi.nlm.nih.gov/clinvar/variation/465765/). A similar variant, n.202T>G, was reported in the homozygous state in two affected siblings with pulmonary fibrosis, nail dystrophy, abnormal skin pigmentation, and leukoplakia; however, further segregation studies in additional affected family members were not available (Family 18, Collopy et al. 2015. PubMed ID: 26024875). Functional studies showed that the n.202T>G variant possesses ~92% of wild-type telomerase activity (Collopy et al. 2015. PubMed ID: 26024875). At this time, the clinical significance of the n.202T>C variant is uncertain due to the absence of conclusive functional and genetic evidence.
Garcia Pulmonary Genetics Research Laboratory, Columbia University Irving Medical Center RCV002509425 SCV002547442 likely risk allele Pulmonary fibrosis 2022-06-09 no assertion criteria provided research Leukocyte telomere length (by qPCR) less than 10th percentile age-adjusted

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