ClinVar Miner

Submissions for variant NM_198253.3(TERT):c.1088C>T (p.Thr363Ile)

dbSNP: rs2126686038
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Institute for Clinical Genetics, University Hospital TU Dresden, University Hospital TU Dresden RCV003237583 SCV002010759 uncertain significance not provided 2021-11-03 criteria provided, single submitter clinical testing
Ambry Genetics RCV004558644 SCV005049098 uncertain significance Dyskeratosis congenita 2023-06-16 criteria provided, single submitter clinical testing The p.T363I variant (also known as c.1088C>T), located in coding exon 2 of the TERT gene, results from a C to T substitution at nucleotide position 1088. The threonine at codon 363 is replaced by isoleucine, an amino acid with 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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