ClinVar Miner

Submissions for variant NM_198253.3(TERT):c.2000A>G (p.Tyr667Cys)

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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 RCV004561408 SCV005049093 uncertain significance Dyskeratosis congenita 2023-05-14 criteria provided, single submitter clinical testing The p.Y667C variant (also known as c.2000A>G), located in coding exon 5 of the TERT gene, results from an A to G substitution at nucleotide position 2000. The tyrosine at codon 667 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 deleterious by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

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