ClinVar Miner

Submissions for variant NM_198253.3(TERT):c.2146G>A (p.Ala716Thr)

dbSNP: rs387907249
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000030629 SCV000597466 pathogenic Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 1 2015-11-19 criteria provided, single submitter clinical testing
Institute of Human Genetics, University of Leipzig Medical Center RCV000030629 SCV001429278 pathogenic Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 1 2019-08-23 criteria provided, single submitter clinical testing
Invitae RCV002513272 SCV003525636 pathogenic Dyskeratosis congenita, autosomal dominant 2; Idiopathic Pulmonary Fibrosis 2022-09-10 criteria provided, single submitter clinical testing This variant is not present in population databases (gnomAD no frequency). For these reasons, this variant has been classified as Pathogenic. This variant disrupts the p.Ala716 amino acid residue in TERT. Other variant(s) that disrupt this residue have been determined to be pathogenic (PMID: 18931339, 21931702, 29146883; Invitae). This suggests that this residue is clinically significant, and that variants that disrupt this residue are likely to be disease-causing. Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is expected to disrupt TERT protein function. ClinVar contains an entry for this variant (Variation ID: 36948). This missense change has been observed in individual(s) with TERT-related conditions (PMID: 21436073, 30203795, 31268371). It has also been observed to segregate with disease in related individuals. This sequence change replaces alanine, which is neutral and non-polar, with threonine, which is neutral and polar, at codon 716 of the TERT protein (p.Ala716Thr).
Genetics and Molecular Pathology, SA Pathology RCV003447479 SCV004175571 likely pathogenic Dyskeratosis congenita, autosomal dominant 2 2021-07-22 criteria provided, single submitter clinical testing
OMIM RCV000030629 SCV000053307 pathogenic Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 1 2011-05-26 no assertion criteria provided literature only

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