ClinVar Miner

Submissions for variant NM_000455.5(STK11):c.76A>G (p.Ile26Val)

dbSNP: rs1555734913
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000527741 SCV000629142 uncertain significance Peutz-Jeghers syndrome 2023-06-25 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) has been performed at Invitae for this missense variant, however the output from this modeling did not meet the statistical confidence thresholds required to predict the impact of this variant on STK11 protein function. ClinVar contains an entry for this variant (Variation ID: 458063). 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 isoleucine, which is neutral and non-polar, with valine, which is neutral and non-polar, at codon 26 of the STK11 protein (p.Ile26Val).
Ambry Genetics RCV002404387 SCV002673656 uncertain significance Hereditary cancer-predisposing syndrome 2020-02-03 criteria provided, single submitter clinical testing The p.I26V variant (also known as c.76A>G), located in coding exon 1 of the STK11 gene, results from an A to G substitution at nucleotide position 76. The isoleucine at codon 26 is replaced by valine, an amino acid with highly similar properties. This amino acid position is highly conserved in available vertebrate species. In addition, the in silico prediction for this alteration is inconclusive. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

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