ClinVar Miner

Submissions for variant NM_000455.5(STK11):c.525_532dup (p.Lys178fs)

dbSNP: rs1555738219
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000542348 SCV000629120 pathogenic Peutz-Jeghers syndrome 2017-03-15 criteria provided, single submitter clinical testing This sequence change inserts 8 nucleotides in exon 4 of the STK11 mRNA (c.525_532dupGGACATCA), causing a frameshift at codon 178. This creates a premature translational stop signal (p.Lys178Argfs*112) and is expected to result in an absent or disrupted protein product. 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). For these reasons, this variant has been classified as Pathogenic.

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