ClinVar Miner

Submissions for variant NM_198253.3(TERT):c.2666G>A (p.Arg889Gln)

gnomAD frequency: 0.00002  dbSNP: rs532158398
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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 RCV002530148 SCV000650755 likely benign Dyskeratosis congenita, autosomal dominant 2; Idiopathic Pulmonary Fibrosis 2023-11-14 criteria provided, single submitter clinical testing
Ambry Genetics RCV004559201 SCV002739506 uncertain significance Dyskeratosis congenita 2022-02-06 criteria provided, single submitter clinical testing The p.R889Q variant (also known as c.2666G>A), located in coding exon 11 of the TERT gene, results from a G to A substitution at nucleotide position 2666. The arginine at codon 889 is replaced by glutamine, 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.
GeneDx RCV004772985 SCV005386938 uncertain significance not provided 2024-02-06 criteria provided, single submitter clinical testing In silico analysis supports 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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