ClinVar Miner

Submissions for variant NM_198253.3(TERT):c.403G>A (p.Gly135Arg)

gnomAD frequency: 0.00025  dbSNP: rs200843534
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002523330 SCV000551512 uncertain significance Dyskeratosis congenita, autosomal dominant 2; Idiopathic Pulmonary Fibrosis 2022-10-26 criteria provided, single submitter clinical testing This sequence change replaces glycine, which is neutral and non-polar, with arginine, which is basic and polar, at codon 135 of the TERT protein (p.Gly135Arg). This variant is present in population databases (rs200843534, gnomAD 0.08%). This variant has not been reported in the literature in individuals affected with TERT-related conditions. ClinVar contains an entry for this variant (Variation ID: 410665). Algorithms developed to predict the effect of missense changes on protein structure and function output the following: SIFT: "Tolerated"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0". The arginine amino acid residue is found in multiple mammalian species, which suggests that this missense change does not adversely affect 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.
Baylor Genetics RCV001331997 SCV001524180 uncertain significance Dyskeratosis congenita, autosomal dominant 2 2024-03-22 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV001821284 SCV002072418 uncertain significance not specified 2019-04-25 criteria provided, single submitter clinical testing
GeneDx RCV003318581 SCV004023047 uncertain significance not provided 2024-05-01 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant does not alter protein structure/function; Published functional studies demonstrate preserved ability to elongate telomeres (PMID: 34019641); This variant is associated with the following publications: (PMID: 26664699, 34019641, 35081690)
Breakthrough Genomics, Breakthrough Genomics RCV003318581 SCV005189390 uncertain significance not provided criteria provided, single submitter not provided

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