ClinVar Miner

Submissions for variant NM_198253.3(TERT):c.962G>T (p.Cys321Phe)

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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 RCV004561370 SCV005049010 uncertain significance Dyskeratosis congenita 2023-04-13 criteria provided, single submitter clinical testing The p.C321F variant (also known as c.962G>T), located in coding exon 2 of the TERT gene, results from a G to T substitution at nucleotide position 962. The cysteine at codon 321 is replaced by phenylalanine, an amino acid with highly dissimilar 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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