ClinVar Miner

Submissions for variant NM_198253.3(TERT):c.1743G>A (p.Trp581Ter)

dbSNP: rs1750086002
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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 RCV003103904 SCV001209042 pathogenic Dyskeratosis congenita, autosomal dominant 2; Idiopathic Pulmonary Fibrosis 2019-12-27 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 nonsense change has been observed in individual(s) with dyskeratosis congenita (PMID: 26024875). This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Trp581*) in the TERT gene. It is expected to result in an absent or disrupted protein product.

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