ClinVar Miner

Submissions for variant NR_001566.1(TERC):n.66C>A

dbSNP: rs1577384356
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000807117 SCV000947154 uncertain significance Dyskeratosis congenita, autosomal dominant 1 2021-08-31 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). Functional studies testing the effect of this variant on TERC secondary structure or function have not been reported. This variant has been observed in an individual affected with pulmonary fibrosis (PMID: 28192371). This variant is not present in population databases (ExAC no frequency). This sequence change occurs in the TERC gene, which encodes an RNA molecule that is not translated into a protein product. TERC is a telomerase RNA template component required for telomeric DNA synthesis.
Garcia Pulmonary Genetics Research Laboratory, Columbia University Irving Medical Center RCV002509547 SCV002547435 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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