ClinVar Miner

Submissions for variant NM_198253.3(TERT):c.2653A>G (p.Arg885Gly)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV004561444 SCV005049164 uncertain significance Dyskeratosis congenita 2024-03-10 criteria provided, single submitter clinical testing The p.R885G variant (also known as c.2653A>G), located in coding exon 10 of the TERT gene, results from an A to G substitution at nucleotide position 2653. The arginine at codon 885 is replaced by glycine, an amino acid with dissimilar properties. This amino acid position is conserved. In addition, the in silico prediction for this alteration is inconclusive. Based on the available evidence, the clinical significance of this alteration remains unclear.

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