ClinVar Miner

Submissions for variant NM_198253.3(TERT):c.902G>A (p.Arg301His) (rs1268051204)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000791471 SCV000930722 uncertain significance Idiopathic fibrosing alveolitis, chronic form; Dyskeratosis congenita, autosomal dominant, 2 2019-06-20 criteria provided, single submitter clinical testing This sequence change replaces arginine with histidine at codon 301 of the TERT protein (p.Arg301His). The arginine residue is weakly conserved and there is a small physicochemical difference between arginine and histidine. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with TERT-related disease. Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Tolerated"; PolyPhen-2: "Possibly Damaging"; Align-GVGD: "Class C0"). 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.
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago RCV001027805 SCV001190419 uncertain significance Dyskeratosis congenita, autosomal dominant, 2; Pulmonary fibrosis and/or bone marrow failure, telomere-related, 1 2019-11-19 criteria provided, single submitter clinical testing TERT NM_198253.2 exon 2 p.Arg301His (c.902G>A): This variant has not been reported in the literature and is not present in large control databases. This variant is present in ClinVar (Variation ID:638818). Evolutionary conservation and computational predictive tools suggest that this variant may not impact the protein. In summary, data on this variant is insufficient for disease classification. Therefore, the clinical significance of this variant is uncertain.

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