ClinVar Miner

Submissions for variant NM_000455.5(STK11):c.265C>T (p.Pro89Ser)

dbSNP: rs1599915282
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV001016141 SCV001177059 uncertain significance Hereditary cancer-predisposing syndrome 2019-03-20 criteria provided, single submitter clinical testing The p.P89S variant (also known as c.265C>T), located in coding exon 1 of the STK11 gene, results from a C to T substitution at nucleotide position 265. The proline at codon 89 is replaced by serine, an amino acid with 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.
Invitae RCV001343233 SCV001537197 uncertain significance Peutz-Jeghers syndrome 2020-09-26 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) performed at Invitae indicates that this missense variant is expected to disrupt STK11 protein function. This variant has not been reported in the literature in individuals with STK11-related conditions. ClinVar contains an entry for this variant (Variation ID: 821590). This variant is not present in population databases (ExAC no frequency). This sequence change replaces proline with serine at codon 89 of the STK11 protein (p.Pro89Ser). The proline residue is highly conserved and there is a moderate physicochemical difference between proline and serine.
Genome-Nilou Lab RCV001343233 SCV002057757 uncertain significance Peutz-Jeghers syndrome 2021-07-15 criteria provided, single submitter clinical testing

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