ClinVar Miner

Submissions for variant NM_000455.5(STK11):c.10G>T (p.Val4Leu)

dbSNP: rs767300470
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000701189 SCV000829976 uncertain significance Peutz-Jeghers syndrome 2018-04-20 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 disease. This variant is not present in population databases (ExAC no frequency). This sequence change replaces valine with leucine at codon 4 of the STK11 protein (p.Val4Leu). The valine residue is weakly conserved and there is a small physicochemical difference between valine and leucine.
Baylor Genetics RCV004569364 SCV005052877 uncertain significance Melanoma, cutaneous malignant, susceptibility to, 1 2024-02-15 criteria provided, single submitter clinical testing
All of Us Research Program, National Institutes of Health RCV000701189 SCV005425384 uncertain significance Peutz-Jeghers syndrome 2024-05-30 criteria provided, single submitter clinical testing This missense variant replaces valine with leucine at codon 4 of the STK11 protein. Computational prediction suggests that this variant may not impact protein structure and function (internally defined REVEL score threshold <= 0.5, PMID: 27666373). To our knowledge, functional studies have not been reported for this variant. This variant has not been reported in individuals affected with STK11-related disorders in the literature. This variant has not been identified in the general population by the Genome Aggregation Database (gnomAD). The available evidence is insufficient to determine the role of this variant in disease conclusively. Therefore, this variant is classified as a Variant of Uncertain Significance.

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