ClinVar Miner

Submissions for variant NM_198253.3(TERT):c.1450G>T (p.Glu484Ter)

dbSNP: rs1561213355
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002538152 SCV000953523 pathogenic Dyskeratosis congenita, autosomal dominant 2; Idiopathic Pulmonary Fibrosis 2018-11-24 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. Loss-of-function variants in TERT are known to be pathogenic (PMID: 16247010, 17460043). This variant has not been reported in the literature in individuals with TERT-related conditions. This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Glu484*) in the TERT gene. It is expected to result in an absent or disrupted protein product.

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