ClinVar Miner

Submissions for variant NM_000455.5(STK11):c.1147C>G (p.Arg383Gly)

dbSNP: rs535449626
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000632814 SCV000754009 uncertain significance Peutz-Jeghers syndrome 2022-03-27 criteria provided, single submitter clinical testing ClinVar contains an entry for this variant (Variation ID: 527819). 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 glycine, which is neutral and non-polar, at codon 383 of the STK11 protein (p.Arg383Gly). 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. 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.
Ambry Genetics RCV001017466 SCV001178550 uncertain significance Hereditary cancer-predisposing syndrome 2019-01-07 criteria provided, single submitter clinical testing The p.R383G variant (also known as c.1147C>G), located in coding exon 9 of the STK11 gene, results from a C to G substitution at nucleotide position 1147. The arginine at codon 383 is replaced by glycine, an amino acid with dissimilar properties. This amino acid position is poorly 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 RCV000632814 SCV002057943 uncertain significance Peutz-Jeghers syndrome 2021-07-15 criteria provided, single submitter clinical testing

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