ClinVar Miner

Submissions for variant NR_001566.1(TERC):n.374_1194del821

dbSNP: rs1553915517
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000007743 SCV004305922 uncertain significance Dyskeratosis congenita, autosomal dominant 1 2023-07-11 criteria provided, single submitter clinical testing This variant is located within the BoxH/ACA scaRNA domain of the TERC RNA component, which is required for telomerase activity (PMID: 21844345). 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 (gnomAD no frequency). This variant has been observed in individual(s) with dyskeratosis congenita (Invitae). Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. 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.
OMIM RCV000007743 SCV000027944 pathogenic Dyskeratosis congenita, autosomal dominant 1 2001-09-27 no assertion criteria provided literature only
GeneReviews RCV000007743 SCV000057774 pathologic Dyskeratosis congenita, autosomal dominant 1 2012-05-10 no assertion criteria provided curation Converted during submission to Pathogenic.

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