ClinVar Miner

Submissions for variant NR_001566.1(TERC):n.193G>A

gnomAD frequency: 0.00001  dbSNP: rs753227339
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000539838 SCV000641094 uncertain significance Dyskeratosis congenita, autosomal dominant 1 2024-01-21 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. The frequency data for this variant in the population databases is considered unreliable, as metrics indicate poor data quality at this position in the gnomAD database. 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: 465764). This variant is located within the hypervariable region that is not conserved in the TERC RNA component (PMID: 10721988, 21844345). The functional significance of this region is not well understood. 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.
Sema4, Sema4 RCV002257805 SCV002533166 uncertain significance Dyskeratosis congenita 2021-04-08 criteria provided, single submitter curation

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