ClinVar Miner

Submissions for variant NM_000455.5(STK11):c.1066A>G (p.Ile356Val)

dbSNP: rs772963844
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000632825 SCV000754021 uncertain significance Peutz-Jeghers syndrome 2023-10-26 criteria provided, single submitter clinical testing This sequence change replaces isoleucine, which is neutral and non-polar, with valine, which is neutral and non-polar, at codon 356 of the STK11 protein (p.Ile356Val). This variant is present in population databases (rs772963844, gnomAD 0.0009%). 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: 527828). 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 RCV001009829 SCV001169943 uncertain significance Hereditary cancer-predisposing syndrome 2022-03-21 criteria provided, single submitter clinical testing The p.I356V variant (also known as c.1066A>G), located in coding exon 8 of the STK11 gene, results from an A to G substitution at nucleotide position 1066. The isoleucine at codon 356 is replaced by valine, an amino acid with highly similar 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 RCV000632825 SCV002057914 uncertain significance Peutz-Jeghers syndrome 2021-07-15 criteria provided, single submitter clinical testing
Sema4, Sema4 RCV001009829 SCV002531630 uncertain significance Hereditary cancer-predisposing syndrome 2021-09-07 criteria provided, single submitter curation

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