ClinVar Miner

Submissions for variant NM_000455.5(STK11):c.53T>C (p.Met18Thr)

dbSNP: rs1555734894
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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 RCV000575786 SCV000664350 uncertain significance Hereditary cancer-predisposing syndrome 2023-10-11 criteria provided, single submitter clinical testing The p.M18T variant (also known as c.53T>C), located in coding exon 1 of the STK11 gene, results from a T to C substitution at nucleotide position 53. The methionine at codon 18 is replaced by threonine, an amino acid with similar properties. This amino acid position is well 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 RCV000798678 SCV000938304 uncertain significance Peutz-Jeghers syndrome 2021-08-27 criteria provided, single submitter clinical testing This variant has not been reported in the literature in individuals with STK11-related disease. ClinVar contains an entry for this variant (Variation ID: 480712). 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. Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated, but these predictions have not been confirmed by published functional studies and their clinical significance is uncertain. This variant is not present in population databases (ExAC no frequency). This sequence change replaces methionine with threonine at codon 18 of the STK11 protein (p.Met18Thr). The methionine residue is highly conserved and there is a moderate physicochemical difference between methionine and threonine.
Genome-Nilou Lab RCV000798678 SCV002057722 uncertain significance Peutz-Jeghers syndrome 2021-07-15 criteria provided, single submitter clinical testing

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