ClinVar Miner

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

dbSNP: rs863224360
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000558280 SCV000629073 uncertain significance Peutz-Jeghers syndrome 2023-09-22 criteria provided, single submitter clinical testing 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: 458019). 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. This variant is not present in population databases (gnomAD no frequency). 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).
Ambry Genetics RCV001010155 SCV001170309 uncertain significance Hereditary cancer-predisposing syndrome 2022-11-28 criteria provided, single submitter clinical testing The p.N393K variant (also known as c.1179C>A), located in coding exon 9 of the STK11 gene, results from a C to A 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.
Color Diagnostics, LLC DBA Color Health RCV001010155 SCV001357580 uncertain significance Hereditary cancer-predisposing syndrome 2020-09-28 criteria provided, single submitter clinical testing This missense variant replaces asparagine with lysine at codon 393 of the STK11 protein. Computational prediction suggests that this variant may not impact protein structure and function (internally defined REVEL score threshold <= 0.5, PMID: 27666373). To our knowledge, functional studies have not been reported for this variant. This variant has not been reported in individuals affected with hereditary cancer in the literature. This variant has not been identified in the general population by the Genome Aggregation Database (gnomAD). The available evidence is insufficient to determine the role of this variant in disease conclusively. Therefore, this variant is classified as a Variant of Uncertain Significance.
Genome-Nilou Lab RCV000558280 SCV002057958 uncertain significance Peutz-Jeghers syndrome 2021-07-15 criteria provided, single submitter clinical testing

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