ClinVar Miner

Submissions for variant NM_198253.3(TERT):c.710G>A (p.Arg237Lys)

dbSNP: rs1751214368
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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 RCV002554502 SCV001231803 uncertain significance Dyskeratosis congenita, autosomal dominant 2; Idiopathic Pulmonary Fibrosis 2020-11-22 criteria provided, single submitter clinical testing 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. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site, but this prediction has not been confirmed by published transcriptional studies. 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 lysine amino acid residue is found in multiple mammalian species, suggesting that this missense change does not adversely affect protein function. These predictions have not been confirmed by published functional studies and their clinical significance is uncertain. This variant has not been reported in the literature in individuals with TERT-related conditions. This variant is not present in population databases (ExAC no frequency). This sequence change replaces arginine with lysine at codon 237 of the TERT protein (p.Arg237Lys). The arginine residue is moderately conserved and there is a small physicochemical difference between arginine and lysine.
Ambry Genetics RCV004559891 SCV005048975 uncertain significance Dyskeratosis congenita 2023-12-24 criteria provided, single submitter clinical testing The p.R237K variant (also known as c.710G>A), located in coding exon 2 of the TERT gene, results from a G to A substitution at nucleotide position 710. The arginine at codon 237 is replaced by lysine, an amino acid with highly similar 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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