ClinVar Miner

Submissions for variant NM_198253.3(TERT):c.3256C>G (p.Arg1086Gly)

dbSNP: rs1747563544
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001223376 SCV001395523 uncertain significance Interstitial lung disease 2; Dyskeratosis congenita, autosomal dominant 2 2019-05-30 criteria provided, single submitter clinical testing This sequence change replaces arginine with glycine at codon 1086 of the TERT protein (p.Arg1086Gly). The arginine residue is weakly conserved and there is a moderate physicochemical difference between arginine and glycine. 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 conditions. Algorithms developed to predict the effect of missense changes on protein structure and function output the following: SIFT: "Tolerated"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0". The glycine amino acid residue is found in multiple mammalian species, suggesting that this missense change does not adversely affect protein function. These predictions have not been confirmed by published functional studies and their clinical significance is uncertain. 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.

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