ClinVar Miner

Submissions for variant NM_198253.3(TERT):c.3323C>G (p.Pro1108Arg)

dbSNP: rs376255453
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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 RCV003106217 SCV001555633 uncertain significance Dyskeratosis congenita, autosomal dominant 2; Idiopathic Pulmonary Fibrosis 2021-08-31 criteria provided, single submitter clinical testing This sequence change replaces proline with arginine at codon 1108 of the TERT protein (p.Pro1108Arg). The proline residue is moderately conserved and there is a moderate physicochemical difference between proline and arginine. This variant is not present in population databases (ExAC no frequency). 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 are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Tolerated"; PolyPhen-2: "Probably 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.
Ambry Genetics RCV004557562 SCV002606231 uncertain significance Dyskeratosis congenita 2022-01-11 criteria provided, single submitter clinical testing The p.P1108R variant (also known as c.3323C>G), located in coding exon 16 of the TERT gene, results from a C to G substitution at nucleotide position 3323. The proline at codon 1108 is replaced by arginine, an amino acid with dissimilar properties. This amino acid position is conserved. In addition, the in silico prediction for this alteration is inconclusive. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

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