ClinVar Miner

Submissions for variant NC_000005.9:g.(?_482643)_(1895829_?)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 RCV003113974 SCV003795274 pathogenic Dyskeratosis congenita, autosomal dominant 2; Idiopathic Pulmonary Fibrosis 2022-10-14 criteria provided, single submitter clinical testing A gross deletion of the genomic region encompassing the full coding sequence of the TERT gene has been identified. Loss-of-function variants in TERT are known to be pathogenic (PMID: 16247010, 17460043). The boundaries of this event are unknown as they extend beyond the assayed region for this gene and therefore may encompass additional genes. A similar copy number variant has been observed in individual(s) with Cri du Chat syndrome (PMID: 12629597). For these reasons, this variant has been classified as Pathogenic.

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