ClinVar Miner

Submissions for variant NC_000005.10:g.(?_218349)_(1297373_?)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 RCV001032442 SCV001195749 pathogenic Interstitial lung disease 2; Dyskeratosis congenita, autosomal dominant 2 2019-10-15 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. The boundaries of this event are unknown as the deletion extends beyond the assayed region for this gene and therefore may encompass additional genes. A similar deletion has been observed in several individuals affected with Cri-du-Chat syndrome. However, these individuals may have larger chromosomal deletions and other genes in the vicinity of TERT may also be deleted (PMID: 12629597). Loss-of-function variants in TERT are known to be pathogenic (PMID: 16247010, 17460043). For these reasons, this variant has been classified as Pathogenic.

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