ClinVar Miner

Submissions for variant NR_001566.1(TERC):n.11G>T

gnomAD frequency: 0.00001  dbSNP: rs1159032173
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000641645 SCV000763289 uncertain significance Dyskeratosis congenita, autosomal dominant 1 2022-07-11 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 at the 5’ end of the TERC RNA component (PMID: 15082312, 21844345). The functional significance of this region is not well understood. ClinVar contains an entry for this variant (Variation ID: 534178). 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.

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