ClinVar Miner

Submissions for variant NM_000455.5(STK11):c.894C>G (p.Phe298Leu)

dbSNP: rs199681533
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Color Diagnostics, LLC DBA Color Health RCV001185567 SCV001351817 uncertain significance Hereditary cancer-predisposing syndrome 2019-04-11 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001495350 SCV001700030 likely benign Peutz-Jeghers syndrome 2023-11-20 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001495350 SCV002057296 uncertain significance Peutz-Jeghers syndrome 2021-07-15 criteria provided, single submitter clinical testing
Ambry Genetics RCV001185567 SCV002687441 uncertain significance Hereditary cancer-predisposing syndrome 2022-10-12 criteria provided, single submitter clinical testing The p.F298L variant (also known as c.894C>G), located in coding exon 7 of the STK11 gene, results from a C to G substitution at nucleotide position 894. The phenylalanine at codon 298 is replaced by leucine, an amino acid with highly similar properties. This amino acid position is not well conserved in available vertebrate species, and leucine is the reference amino acid in other vertebrate species. In addition, this alteration is predicted to be tolerated by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

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