ClinVar Miner

Submissions for variant NM_000455.5(STK11):c.1179C>G (p.Asn393Lys)

dbSNP: rs863224360
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000694814 SCV000823276 uncertain significance Peutz-Jeghers syndrome 2024-01-15 criteria provided, single submitter clinical testing This sequence change replaces asparagine, which is neutral and polar, with lysine, which is basic and polar, at codon 393 of the STK11 protein (p.Asn393Lys). This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with STK11-related conditions. ClinVar contains an entry for this variant (Variation ID: 573206). 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 with a negative predictive value of 95%. 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 RCV001010156 SCV001170310 uncertain significance Hereditary cancer-predisposing syndrome 2022-09-01 criteria provided, single submitter clinical testing The p.N393K variant (also known as c.1179C>G), located in coding exon 9 of the STK11 gene, results from a C to G substitution at nucleotide position 1179. The asparagine at codon 393 is replaced by lysine, an amino acid with similar properties. This amino acid position is highly 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 RCV000694814 SCV002057957 uncertain significance Peutz-Jeghers syndrome 2021-07-15 criteria provided, single submitter clinical testing

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