ClinVar Miner

Submissions for variant NM_000455.5(STK11):c.113C>G (p.Pro38Arg)

dbSNP: rs1568690036
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000792286 SCV000931572 uncertain significance Peutz-Jeghers syndrome 2023-01-06 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 not expected to disrupt STK11 protein function. ClinVar contains an entry for this variant (Variation ID: 639482). 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 proline, which is neutral and non-polar, with arginine, which is basic and polar, at codon 38 of the STK11 protein (p.Pro38Arg).
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV001805858 SCV002051317 uncertain significance not specified 2021-12-22 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV000792286 SCV002057738 uncertain significance Peutz-Jeghers syndrome 2021-07-15 criteria provided, single submitter clinical testing
All of Us Research Program, National Institutes of Health RCV000792286 SCV004827189 uncertain significance Peutz-Jeghers syndrome 2023-12-01 criteria provided, single submitter clinical testing
Baylor Genetics RCV004569504 SCV005052887 uncertain significance Melanoma, cutaneous malignant, susceptibility to, 1 2023-12-28 criteria provided, single submitter clinical testing
GeneDx RCV004760790 SCV005371389 uncertain significance not provided 2023-06-12 criteria provided, single submitter clinical testing Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge

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