ClinVar Miner

Submissions for variant NC_000019.10:g.(?_1218417)_(1223172_?)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 RCV000467252 SCV000563774 pathogenic Peutz-Jeghers syndrome 2016-09-14 criteria provided, single submitter clinical testing This variant is a gross deletion of the genomic region encompassing exons 2-8 of the STK11 gene. While this deletion is not anticipated to result in nonsense mediated decay, it is expected to create a truncated or disrupted STK11 protein. Loss-of-function variants including gross deletions in STK11 are known to be pathogenic. Deletion of exons 2-8 has been reported in an individual with Peutz-Jeghers syndrome (PJS) in the Leiden Open-source Variation Database (PMID: 21520333). For these reasons, this variant has been classified as Pathogenic.

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