ClinVar Miner

Submissions for variant NC_000019.10:g.(?_1218407)_(1226647_?)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 RCV001031281 SCV001194587 pathogenic Peutz-Jeghers syndrome 2023-07-24 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. The region of the STK11 gene that includes exon(s) 3-9 has been determined to be clinically significant (PMID: 24652667, 26386697; Invitae). Therefore, deletions that encompass that region are likely to be disease-causing. A similar copy number variant has been observed in individual(s) with Peutz-Jeghers syndrome (PMID: 16287113). This variant is a gross deletion of the genomic region encompassing exon(s) 2-9 of the STK11 gene, which includes the termination codon. This deletion extends beyond the assayed region for this gene and therefore may encompass additional genes. While this deletion is not anticipated to lead to nonsense mediated decay, it is expected to alter mRNA translation or result in a truncated protein product.

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