ClinVar Miner

Submissions for variant NM_198253.3(TERT):c.1685_1686del (p.Tyr562fs)

dbSNP: rs1579580058
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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 RCV002535957 SCV000963546 pathogenic Dyskeratosis congenita, autosomal dominant 2; Idiopathic Pulmonary Fibrosis 2018-08-15 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Tyr562Cysfs*66) in the TERT gene. It is expected to result in an absent or disrupted protein product. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with TERT-related disease. Loss-of-function variants in TERT are known to be pathogenic (PMID: 16247010, 17460043). For these reasons, this variant has been classified as Pathogenic.

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