ClinVar Miner

Submissions for variant NC_000019.9:g.(?_1206913)_(1207212_?)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 RCV001386945 SCV001587355 pathogenic Peutz-Jeghers syndrome 2023-10-27 criteria provided, single submitter clinical testing This variant is a gross deletion of the genomic region encompassing exon(s) 1 of the STK11 gene, which includes the initiator codon. This deletion extends beyond the assayed region for this gene and therefore may encompass additional genes. 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 clinical features of Peutz-Jeghers syndrome (PMID: 19727776, 22382802, 23399955, 24260271). The region of the STK11 gene that includes exon(s) exon 1 has been determined to be clinically significant (PMID: 12829253). Therefore, deletions that encompass that region are likely to be disease-causing. For these reasons, this variant has been classified as Pathogenic.

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