ClinVar Miner

Submissions for variant NM_000455.5(STK11):c.715T>G (p.Trp239Gly)

dbSNP: rs745622138
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV001026100 SCV001188416 uncertain significance Hereditary cancer-predisposing syndrome 2019-05-05 criteria provided, single submitter clinical testing The p.W239G variant (also known as c.715T>G), located in coding exon 5 of the STK11 gene, results from a T to G substitution at nucleotide position 715. The tryptophan at codon 239 is replaced by glycine, an amino acid with highly dissimilar properties. This variant was reported in 1/7 patients with a clinical diagnosis of Peutz-Jeghers syndrome (Weng MT et al. J. Formos. Med. Assoc. 2010 May;109:354-61). This amino acid position is highly conserved in available vertebrate species. In addition, this alteration is predicted to be deleterious by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

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