ClinVar Miner

Submissions for variant NM_198253.3(TERT):c.1387G>T (p.Gly463Cys)

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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 RCV004559475 SCV002695941 uncertain significance Dyskeratosis congenita 2022-04-19 criteria provided, single submitter clinical testing The p.G463C variant (also known as c.1387G>T), located in coding exon 2 of the TERT gene, results from a G to T substitution at nucleotide position 1387. The glycine at codon 463 is replaced by cysteine, 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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