ClinVar Miner

Submissions for variant NC_000019.10:g.(?_1206914)_(1226647_?)del

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001031938 SCV001195245 pathogenic Peutz-Jeghers syndrome 2023-12-30 criteria provided, single submitter clinical testing A gross deletion of the genomic region encompassing the full coding sequence of the STK11 gene has been identified. Loss-of-function variants in STK11 are known to be pathogenic (PMID: 15188174, 16287113). 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 Peutz–Jeghers syndrome (PMID: 14970844, 16287113, 16648371, 17924967, 20623358, 22382802, 23399955, 28303455; Invitae). It has also been observed to segregate with disease in related individuals. For these reasons, this variant has been classified as Pathogenic.

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