ClinVar Miner

Submissions for variant NM_000455.5(STK11):c.897_905del (p.300IRQ[1])

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV003507762 SCV004328867 pathogenic Peutz-Jeghers syndrome 2023-09-27 criteria provided, single submitter clinical testing This variant, c.897_905del, results in the deletion of 3 amino acid(s) of the STK11 protein (p.Ile303_Gln305del), but otherwise preserves the integrity of the reading frame. This variant is not present in population databases (gnomAD no frequency). This variant has been observed in individuals with Peutz-Jeghers syndrome (PMID: 15863673, 19908348, 30528796). This variant disrupts a region of the STK11 protein in which other variant(s) (p.Arg304Trp) have been determined to be pathogenic (PMID: 9809980, 12865922, 15121768, 17404884). This suggests that this is a clinically significant region of the protein, and that variants that disrupt it are likely to be disease-causing. For these reasons, this variant has been classified as Pathogenic.

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