ClinVar Miner

Submissions for variant NM_000455.5(STK11):c.1277G>C (p.Arg426Pro)

dbSNP: rs752699287
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000232291 SCV000284857 uncertain significance Peutz-Jeghers syndrome 2022-10-14 criteria provided, single submitter clinical testing In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is not expected to disrupt STK11 protein function. ClinVar contains an entry for this variant (Variation ID: 237795). This variant has not been reported in the literature in individuals affected with STK11-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change replaces arginine, which is basic and polar, with proline, which is neutral and non-polar, at codon 426 of the STK11 protein (p.Arg426Pro).
Color Diagnostics, LLC DBA Color Health RCV000580436 SCV000686614 uncertain significance Hereditary cancer-predisposing syndrome 2019-04-11 criteria provided, single submitter clinical testing
Ambry Genetics RCV000580436 SCV001170944 uncertain significance Hereditary cancer-predisposing syndrome 2022-09-01 criteria provided, single submitter clinical testing The p.R426P variant (also known as c.1277G>C), located in coding exon 9 of the STK11 gene, results from a G to C substitution at nucleotide position 1277. The arginine at codon 426 is replaced by proline, an amino acid with dissimilar properties. This amino acid position is not well conserved in available 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.
Genome-Nilou Lab RCV000232291 SCV002058012 uncertain significance Peutz-Jeghers syndrome 2021-07-15 criteria provided, single submitter clinical testing

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