ClinVar Miner

Submissions for variant NM_198253.3(TERT):c.1424del (p.Pro475fs)

dbSNP: rs2126684234
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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 RCV002551552 SCV001587583 pathogenic Dyskeratosis congenita, autosomal dominant 2; Idiopathic Pulmonary Fibrosis 2022-10-18 criteria provided, single submitter clinical testing This variant has not been reported in the literature in individuals affected with TERT-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Pro475Glnfs*34) in the TERT gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in TERT are known to be pathogenic (PMID: 16247010, 17460043). ClinVar contains an entry for this variant (Variation ID: 1073945). For these reasons, this variant has been classified as Pathogenic.

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