ClinVar Miner

Submissions for variant NM_000455.5(STK11):c.379A>G (p.Met127Val)

dbSNP: rs1599925292
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000800341 SCV000940049 uncertain significance Peutz-Jeghers syndrome 2018-12-13 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. 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 has not been reported in the literature in individuals with STK11-related conditions. This variant is not present in population databases (ExAC no frequency). This sequence change replaces methionine with valine at codon 127 of the STK11 protein (p.Met127Val). The methionine residue is moderately conserved and there is a small physicochemical difference between methionine and valine.
Ambry Genetics RCV001021171 SCV001182752 uncertain significance Hereditary cancer-predisposing syndrome 2023-11-28 criteria provided, single submitter clinical testing The p.M127V variant (also known as c.379A>G), located in coding exon 3 of the STK11 gene, results from an A to G substitution at nucleotide position 379. The methionine at codon 127 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.
Genome-Nilou Lab RCV000800341 SCV002057780 uncertain significance Peutz-Jeghers syndrome 2021-07-15 criteria provided, single submitter clinical testing

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