ClinVar Miner

Submissions for variant NM_198253.3(TERT):c.2294C>T (p.Thr765Ile)

dbSNP: rs1749100008
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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 RCV002546946 SCV001535924 uncertain significance Dyskeratosis congenita, autosomal dominant 2; Idiopathic Pulmonary Fibrosis 2020-04-14 criteria provided, single submitter clinical testing This variant has not been reported in the literature in individuals with TERT-related conditions. 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. 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"). This variant is not present in population databases (ExAC no frequency). This sequence change replaces threonine with isoleucine at codon 765 of the TERT protein (p.Thr765Ile). The threonine residue is moderately conserved and there is a moderate physicochemical difference between threonine and isoleucine.

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