ClinVar Miner

Submissions for variant NM_198253.3(TERT):c.1462C>T (p.Leu488Phe)

gnomAD frequency: 0.00001  dbSNP: rs746216837
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000502511 SCV000597468 uncertain significance not specified 2016-11-30 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002524311 SCV001495495 likely benign Dyskeratosis congenita, autosomal dominant 2; Idiopathic Pulmonary Fibrosis 2023-02-16 criteria provided, single submitter clinical testing
Ambry Genetics RCV004822081 SCV005512346 uncertain significance Dyskeratosis congenita 2024-08-27 criteria provided, single submitter clinical testing The p.L488F variant (also known as c.1462C>T), located in coding exon 2 of the TERT gene, results from a C to T substitution at nucleotide position 1462. The leucine at codon 488 is replaced by phenylalanine, an amino acid with highly similar properties. This amino acid position is conserved. In addition, this alteration is predicted to be tolerated by in silico analysis. Based on the available evidence, the clinical significance of this variant remains unclear.

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