ClinVar Miner

Submissions for variant NR_001566.3(TERC):n.301A>T

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Epi-/Genome lab, Department of Hematology, Rigshospitalet RCV004697322 SCV004697312 likely pathogenic Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 2 2024-02-20 no assertion criteria provided clinical testing The NR_001566.1:n.301A>T has been reported in a family with heavy hematological disesase, ranging from cytopenia to myeloid neoplasms, pulmonary disease including hepatopulmonary syndrome. The variant segregated with with affected family members in an autosomal dominant inheritance pattern. The variant is located on the J6a-6.1 region which was shown by Huang et al., Nature Structural & Molecular Biology, 2014, to be essential for binding to TERT and thereby essential for telomerase activity. We classify the variant as likely pathogenic based on the ACMG criteria (PM1, PM2, PP1, PP2, PP3, PP4). Richards et al. Genetics in Medicine, 17, (5), 405–424, (2015).

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