ClinVar Miner

Submissions for variant NM_198253.3(TERT):c.2354C>G (p.Pro785Arg)

gnomAD frequency: 0.00003  dbSNP: rs483352771
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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 RCV002534443 SCV000834784 uncertain significance Dyskeratosis congenita, autosomal dominant 2; Idiopathic Pulmonary Fibrosis 2023-08-17 criteria provided, single submitter clinical testing 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. 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. ClinVar contains an entry for this variant (Variation ID: 581831). This variant has not been reported in the literature in individuals affected with TERT-related conditions. This variant is present in population databases (rs483352771, gnomAD 0.004%). This sequence change replaces proline, which is neutral and non-polar, with arginine, which is basic and polar, at codon 785 of the TERT protein (p.Pro785Arg).
Ambry Genetics RCV004559634 SCV005049134 uncertain significance Dyskeratosis congenita 2023-08-05 criteria provided, single submitter clinical testing The p.P785R variant (also known as c.2354C>G), located in coding exon 7 of the TERT gene, results from a C to G substitution at nucleotide position 2354. The proline at codon 785 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.
GeneDx RCV004777851 SCV005391026 uncertain significance not provided 2024-04-05 criteria provided, single submitter clinical testing In silico analysis indicates that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge

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