ClinVar Miner

Submissions for variant NC_000019.9:g.(?_852323)_(1207208_?)dup

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000527991 SCV000629053 uncertain significance Peutz-Jeghers syndrome 2017-02-06 criteria provided, single submitter clinical testing This variant is a gross duplication of the genomic region encompassing exon 1 of the STK11 gene. The 5' end of this event is unknown as it extends beyond the assayed region for this gene and therefore may encompass additional genes. The 3' boundary is likely confined to intron 1 of the STK11 gene. Duplication of exon 1 has not been reported in the literature in individuals with a STK11-related disease. Experimental studies and prediction algorithms are not available for this variant, and the functional significance of the duplicated exon is currently unknown. In summary, the exact genomic location of this variant is unknown and the impact of this duplication on STK11 protein function has not been established. Therefore, it has been classified as a Variant of Uncertain Significance.

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