ClinVar Miner

Submissions for variant NR_001566.1(TERC):n.110_113del (rs199422270)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001214506 SCV001386189 likely pathogenic Dyskeratosis congenita, autosomal dominant 1 2019-06-17 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 not present in population databases (ExAC no frequency). This variant has been observed in individuals with personal and family history of dyskeratosis congenita, aplastic anemia, and pulmonary fibrosis (PMID: 17640862, 25612863, 15098033, 22341970). ClinVar contains an entry for this variant (Variation ID: 7325). This variant is located within the template/pseudoknot domain of the TERC RNA component, which is required for RNA or RNP stability (PMID: 15082312, 21844345). This variant has been reported to affect TERC activity (PMID: 15319288, 17640862, 20022961). In summary, the currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as Likely Pathogenic.
OMIM RCV000007749 SCV000027950 pathogenic Pulmonary fibrosis and/or bone marrow failure, telomere-related, 2 2002-06-22 no assertion criteria provided literature only
GeneReviews RCV000032556 SCV000056228 pathologic Aplastic anemia 2012-05-10 no assertion criteria provided curation Converted during submission to Pathogenic.

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