ClinVar Miner

Submissions for variant NC_000019.10:g.(?_1219314)_(1222016_?)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 RCV000798162 SCV000937763 pathogenic Peutz-Jeghers syndrome 2018-08-22 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. Experimental studies and prediction algorithms are not available for this variant. However, this variant is expected to delete part of the catalytic kinase domain of the STK11 protein, which is important for proper protein function (PMID: 19629071, 9837816). This variant has not been reported in the literature in individuals with STK11-related disease. This variant is an in-frame deletion of the genomic region encompassing exons 3-7 of the STK11 gene. It preserves the integrity of the reading frame. Sub-genic, in-frame deletions of exon 3 and exons 4-5 have been observed in individuals affected with Peutz-Jeghers syndrome (PMID: 16287113, 27821076, 24652667). Therefore, deletions that fully encompass these regions are also expected to be causative of disease.

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