ClinVar Miner

Submissions for variant NM_198253.3(TERT):c.1982T>A (p.Leu661Gln)

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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 RCV004560119 SCV003869016 uncertain significance Dyskeratosis congenita 2022-12-23 criteria provided, single submitter clinical testing The p.L661Q variant (also known as c.1982T>A), located in coding exon 5 of the TERT gene, results from a T to A substitution at nucleotide position 1982. The leucine at codon 661 is replaced by glutamine, an amino acid with 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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