ClinVar Miner

Submissions for variant NC_000005.9:g.(?_1256219)_(1264507_?)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 RCV004580501 SCV005063032 pathogenic Dyskeratosis congenita, autosomal dominant 2; Idiopathic Pulmonary Fibrosis 2023-12-30 criteria provided, single submitter clinical testing This variant is a gross deletion of the genomic region encompassing exon(s) 12-13 of the TERT gene. This variant would be expected to be in-frame, preserving the integrity of the reading frame. This variant has not been reported in the literature in individuals affected with TERT-related conditions. This variant disrupts a region of the TERT protein in which other variant(s) (p.Ala1009Val) have been determined to be pathogenic (PMID: 27836952, 30523342; Invitae). This suggests that this is a clinically significant region of the protein, and that variants that disrupt it are likely to be disease-causing. For these reasons, this variant has been classified as Pathogenic.

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