ClinVar Miner

Submissions for variant NM_198253.3(TERT):c.560C>G (p.Pro187Arg)

gnomAD frequency: 0.00001  dbSNP: rs906128293
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002563048 SCV001396095 uncertain significance Dyskeratosis congenita, autosomal dominant 2; Idiopathic Pulmonary Fibrosis 2023-07-26 criteria provided, single submitter clinical testing This variant is not present in population databases (gnomAD no frequency). 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. Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is not expected to disrupt TERT protein function. ClinVar contains an entry for this variant (Variation ID: 951919). This variant has not been reported in the literature in individuals affected with TERT-related conditions. This sequence change replaces proline, which is neutral and non-polar, with arginine, which is basic and polar, at codon 187 of the TERT protein (p.Pro187Arg).
PreventionGenetics, part of Exact Sciences RCV004538472 SCV004117785 uncertain significance TERT-related disorder 2022-08-24 criteria provided, single submitter clinical testing The TERT c.560C>G variant is predicted to result in the amino acid substitution p.Pro187Arg. To our knowledge, this variant has not been reported in the literature or in a large population database (http://gnomad.broadinstitute.org), indicating this variant is rare. It is interpreted as uncertain significance in ClinVar (https://www.ncbi.nlm.nih.gov/clinvar/variation/951919/). At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence.
Ambry Genetics RCV004557448 SCV005048953 uncertain significance Dyskeratosis congenita 2023-07-08 criteria provided, single submitter clinical testing The p.P187R variant (also known as c.560C>G), located in coding exon 2 of the TERT gene, results from a C to G substitution at nucleotide position 560. The proline at codon 187 is replaced by arginine, an amino acid with dissimilar properties. This amino acid position is conserved. In addition, this alteration is predicted to be tolerated by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

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