ClinVar Miner

Submissions for variant NR_001566.1(TERC):n.450G>A (rs199422287)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000467315 SCV000551481 uncertain significance Dyskeratosis congenita, autosomal dominant 1 2019-12-02 criteria provided, single submitter clinical testing 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. This variant is present in population databases (rs199422287, ExAC 0.002%). This variant has been reported in an individual affected with aplastic anemia (PMID: 12676774). ClinVar contains an entry for this variant (Variation ID: 39296). This variant is located within the BoxH/ACA scaRNA domain of the TERC RNA component, which is required for telomerase activity (PMID: 21844345). Experimental studies have shown that this variant does not affect stability of the TERC RNA, assembly of the RNA-protein complex, or the enzyme activity of the complex in vitro (PMID: 19095616, 15550482, 19835419). In addition, the individual affected with aplastic anemia was shown to have normal telomere length, suggesting that the enzyme activity is also maintained in vivo (PMID: 15550482). 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.
GeneReviews RCV000032576 SCV000056249 pathologic Aplastic anemia 2012-05-10 no assertion criteria provided curation Converted during submission to Pathogenic.

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