ClinVar Miner

Submissions for variant NM_198253.3(TERT):c.260G>A (p.Arg87Lys)

gnomAD frequency: 0.00001  dbSNP: rs776383511
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002568609 SCV001418244 uncertain significance Dyskeratosis congenita, autosomal dominant 2; Idiopathic Pulmonary Fibrosis 2021-08-13 criteria provided, single submitter clinical testing This sequence change replaces arginine with lysine at codon 87 of the TERT protein (p.Arg87Lys). The arginine residue is moderately conserved and there is a small physicochemical difference between arginine and lysine. This variant is present in population databases (rs776383511, ExAC 0.007%). This variant has not been reported in the literature in individuals affected with TERT-related conditions. Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated. 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.
Baylor Genetics RCV003473827 SCV004203633 uncertain significance Dyskeratosis congenita, autosomal dominant 2 2023-08-12 criteria provided, single submitter clinical testing

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