ClinVar Miner

Submissions for variant NM_198253.3(TERT):c.3065A>G (p.His1022Arg)

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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 RCV004559940 SCV002753832 uncertain significance Dyskeratosis congenita 2022-04-24 criteria provided, single submitter clinical testing The p.H1022R variant (also known as c.3065A>G), located in coding exon 14 of the TERT gene, results from an A to G substitution at nucleotide position 3065. The histidine at codon 1022 is replaced by arginine, 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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