ClinVar Miner

Submissions for variant NM_198253.3(TERT):c.2581G>A (p.Gly861Arg)

dbSNP: rs1554039721
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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 RCV002530146 SCV000650753 uncertain significance Dyskeratosis congenita, autosomal dominant 2; Idiopathic Pulmonary Fibrosis 2024-01-18 criteria provided, single submitter clinical testing This sequence change replaces glycine, which is neutral and non-polar, with arginine, which is basic and polar, at codon 861 of the TERT protein (p.Gly861Arg). This variant is not present in population databases (gnomAD no frequency). This missense change has been observed in individual(s) with familial pulmonary fibrosis and dyskeratosis congenita (PMID: 21349926, 21931702). ClinVar contains an entry for this variant (Variation ID: 471871). An algorithm developed to predict the effect of missense changes on protein structure and function (PolyPhen-2) suggests that this variant is likely to be disruptive. Experimental studies have shown that this missense change affects TERT function (PMID: 21931702). 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.
GeneDx RCV003322785 SCV004028396 uncertain significance not provided 2023-02-21 criteria provided, single submitter clinical testing Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Published functional studies demonstrate reduced telomerase activity compared to wild type (Vulliamy et al., 2011); This variant is associated with the following publications: (PMID: 21349926, 21931702)
Garcia Pulmonary Genetics Research Laboratory, Columbia University Irving Medical Center RCV002509435 SCV002547395 likely risk allele Pulmonary fibrosis 2022-06-09 no assertion criteria provided research Leukocyte telomere length (by qPCR) less than 10th percentile age-adjusted

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