ClinVar Miner

Submissions for variant NC_000019.9:g.(?_1218406)_(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 RCV001386948 SCV001587362 pathogenic Peutz-Jeghers syndrome 2023-08-18 criteria provided, single submitter clinical testing This variant is a gross deletion of the genomic region encompassing exon(s) 2-3 of the STK11 gene. This variant would be expected to be in-frame, preserving the integrity of the reading frame. A similar copy number variant has been observed in individuals with Peutz–Jeghers syndrome (PMID: 16287113, 20435009, 20623358, 21118512, 22775437, 25841653). This variant disrupts the p.Met136 amino acid residue in STK11. Other variant(s) that disrupt this residue have been determined to be pathogenic (PMID: 11389158, 24260271; Invitae). This suggests that this residue is clinically significant, and that variants that disrupt this residue are likely to be disease-causing. For these reasons, this variant has been classified as Pathogenic.

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