ClinVar Miner

Submissions for variant NM_000455.5(STK11):c.129del (p.Lys44fs)

dbSNP: rs1060499961
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000466541 SCV000541141 pathogenic Peutz-Jeghers syndrome 2016-07-09 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, truncating variants in STK11 are known to be pathogenic (PMID: 15188174, 16287113). This sequence change deletes 1 nucleotide from exon 1 of the STK11 mRNA (c.129delC), causing a frameshift at codon 44. This creates a premature translational stop signal (p.Lys44Serfs*7) and is expected to result in an absent or disrupted protein product.

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