ClinVar Miner

Submissions for variant NR_001566.1(TERC):n.37A>G

gnomAD frequency: 0.00003  dbSNP: rs199422261
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000032573 SCV000641100 uncertain significance Dyskeratosis congenita, autosomal dominant 1 2023-12-19 criteria provided, single submitter clinical testing This variant occurs in the TERC gene, which encodes an RNA molecule that does not result in a protein product. This variant is present in population databases (rs199422261, gnomAD 0.009%). This variant has been observed in individual(s) with Idiopathic pulmonary fibrosis, aplastic anemia, and dyskeratosis congenita (PMID: 17460043, 20193600, 26136524). ClinVar contains an entry for this variant (Variation ID: 39293). 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). Experimental studies are conflicting or provide insufficient evidence to determine the effect of this variant on TERC function (PMID: 15886322, 17460043). 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. 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.
Fulgent Genetics, Fulgent Genetics RCV002482938 SCV002793300 uncertain significance Dyskeratosis congenita, autosomal dominant 1; Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 2 2021-11-08 criteria provided, single submitter clinical testing
GeneReviews RCV000032573 SCV000056245 pathologic Dyskeratosis congenita, autosomal dominant 1 2012-05-10 no assertion criteria provided curation Converted during submission to Pathogenic.
Garcia Pulmonary Genetics Research Laboratory, Columbia University Irving Medical Center RCV002509180 SCV002547433 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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