ClinVar Miner

Submissions for variant NM_198253.3(TERT):c.2320C>T (p.Arg774Ter)

gnomAD frequency: 0.00009  dbSNP: rs770066110
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Degerman lab, Umeå University RCV000677346 SCV000611698 pathogenic Dyskeratosis congenita, autosomal dominant 2 2017-11-23 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002525003 SCV001230882 pathogenic Dyskeratosis congenita, autosomal dominant 2; Idiopathic Pulmonary Fibrosis 2023-05-27 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 446373). This premature translational stop signal has been observed in individual(s) with clinical features consistent with TERT-related conditions (PMID: 29483670). This variant is present in population databases (rs770066110, gnomAD 0.06%). This sequence change creates a premature translational stop signal (p.Arg774*) 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).

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