ClinVar Miner

Submissions for variant NC_000019.9:g.(?_1206913)_(1219422_?)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 RCV002041847 SCV002108432 pathogenic Peutz-Jeghers syndrome 2021-08-04 criteria provided, single submitter clinical testing This variant is a gross deletion of the genomic region encompassing exon(s) 1-3 of the STK11 gene, which includes the initiator codon. 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 3 of the STK11 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in STK11 are known to be pathogenic (PMID: 15188174, 16287113). A similar copy number variant has been observed in individual(s) with Peutz-Jeghers syndrome (PMID: 16648371, 20623358). For these reasons, this variant has been classified as Pathogenic.

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