ClinVar Miner

Submissions for variant NR_001566.3(TERC):n.429dup

dbSNP: rs1777957000
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001348751 SCV001543062 uncertain significance Dyskeratosis congenita, autosomal dominant 1 2020-09-10 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 BoxH/ACA scaRNA domain of the TERC RNA component, which is required for telomerase activity (PMID: 21844345). Functional studies testing the effect of this variant on TERC secondary structure or function have not been reported. This variant has not been reported in the literature in individuals with TERC-related conditions. 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.

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