ClinVar Miner

Submissions for variant NC_000005.9:g.(?_1279790)_(1280463_?)del

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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 RCV004580500 SCV005063031 pathogenic Dyskeratosis congenita, autosomal dominant 2; Idiopathic Pulmonary Fibrosis 2023-06-16 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. This variant has not been reported in the literature in individuals affected with TERT-related conditions. This variant is a gross deletion of the genomic region encompassing exon(s) 4 of the TERT gene. This deletion is out-of-frame, and is expected to create a premature termination codon and 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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