ClinVar Miner

Submissions for variant NR_001566.1(TERC):n.395G>T

gnomAD frequency: 0.00001  dbSNP: rs1415109076
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000823555 SCV000964417 uncertain significance Dyskeratosis congenita, autosomal dominant 1 2023-11-08 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 (no rsID available, gnomAD 0.007%). This variant has not been reported in the literature in individuals affected with TERC-related conditions. ClinVar contains an entry for this variant (Variation ID: 665301). This variant is located within the BoxH/ACA scaRNA domain of the TERC RNA component, which is required for telomerase activity (PMID: 21844345). 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.

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