ClinVar Miner

Submissions for variant NM_198253.3(TERT):c.2762A>G (p.Gln921Arg)

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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 RCV004561453 SCV005049176 uncertain significance Dyskeratosis congenita 2023-06-12 criteria provided, single submitter clinical testing The p.Q921R variant (also known as c.2762A>G), located in coding exon 11 of the TERT gene, results from an A to G substitution at nucleotide position 2762. The glutamine at codon 921 is replaced by arginine, an amino acid with highly similar properties. This amino acid position is conserved. In addition, the in silico prediction for this alteration is inconclusive. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

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