ClinVar Miner

Submissions for variant NM_000455.4(STK11):c.-1115_*16+?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 RCV000229737 SCV000284836 pathogenic Peutz-Jeghers syndrome 2016-11-29 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. The boundaries of this event are unknown as the deletion extends beyond the assayed region for this gene and therefore may encompass additional genes. Large deletions involving the STK11 gene are known to be pathogenic and account for about 30% of the Peutz-Jeghers syndrome (PJS) cases (PMID: 20623358). Whole gene deletions of STK11 have been reported in several individuals affected with PJS (PMID: 23399955, 17924967, 16287113, 22382802, 16648371). For these reasons, this variant has been classified as Pathogenic.

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