ClinVar Miner

Submissions for variant NC_000019.10:g.(?_1206904)_(1219423_?)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 RCV000797480 SCV000937039 pathogenic Peutz-Jeghers syndrome 2018-07-23 criteria provided, single submitter clinical testing This variant is a gross deletion of the genomic region encompassing exons 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. This is expected to result in an absent or disrupted protein product. A similar deletion of exons 1-3 has been reported in several individuals affected with Peutz-Jeghers syndrome (PMID: 16648371, 20623358). Loss-of-function variants in STK11 are known to be pathogenic (PMID: 15188174, 16287113). For these reasons, this variant has been classified as Pathogenic.

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