ClinVar Miner

Submissions for variant NM_000455.5(STK11):c.935_936del (p.Lys312fs)

dbSNP: rs397518443
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000474608 SCV000541142 pathogenic Peutz-Jeghers syndrome 2016-11-13 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. While this particular variant has not been reported in the literature, loss-of-function variants in STK11 are known to be pathogenic (PMID: 15188174, 16287113). This sequence change creates a premature translational stop signal at codon 312 (p.Lys312Thrfs*5) of the STK11 gene. It is expected to result in an absent or disrupted protein product.

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