ClinVar Miner

Submissions for variant NM_198253.3(TERT):c.658G>T (p.Gly220Cys)

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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 RCV004821792 SCV005512340 uncertain significance Dyskeratosis congenita 2024-11-22 criteria provided, single submitter clinical testing The p.G220C variant (also known as c.658G>T), located in coding exon 2 of the TERT gene, results from a G to T substitution at nucleotide position 658. The glycine at codon 220 is replaced by cysteine, an amino acid with highly 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 variant remains unclear.

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