ClinVar Miner

Submissions for variant NM_198253.3(TERT):c.1390T>A (p.Phe464Ile)

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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 RCV004561380 SCV005049031 uncertain significance Dyskeratosis congenita 2023-12-25 criteria provided, single submitter clinical testing The p.F464I variant (also known as c.1390T>A), located in coding exon 2 of the TERT gene, results from a T to A substitution at nucleotide position 1390. The phenylalanine at codon 464 is replaced by isoleucine, an amino acid with highly similar 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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