ClinVar Miner

Submissions for variant NM_017763.6(RNF43):c.1114C>T (p.Pro372Ser)

gnomAD frequency: 0.00021  dbSNP: rs201204271
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 5
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001225914 SCV001398208 uncertain significance not provided 2024-11-04 criteria provided, single submitter clinical testing This sequence change replaces proline, which is neutral and non-polar, with serine, which is neutral and polar, at codon 372 of the RNF43 protein (p.Pro372Ser). This variant is present in population databases (rs201204271, gnomAD 0.05%), and has an allele count higher than expected for a pathogenic variant. This variant has not been reported in the literature in individuals affected with RNF43-related conditions. ClinVar contains an entry for this variant (Variation ID: 953598). An algorithm developed to predict the effect of missense changes on protein structure and function outputs the following: PolyPhen-2: "Benign". The serine amino acid residue is found in multiple mammalian species, which suggests that this missense change does not adversely affect protein function. 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.
Institute for Clinical Genetics, University Hospital TU Dresden, University Hospital TU Dresden RCV001225914 SCV002011589 uncertain significance not provided 2021-11-03 criteria provided, single submitter clinical testing
Center for Genomic Medicine, Rigshospitalet, Copenhagen University Hospital RCV002268457 SCV002551094 uncertain significance not specified 2025-03-04 criteria provided, single submitter clinical testing
GeneDx RCV001225914 SCV005900910 uncertain significance not provided 2024-09-23 criteria provided, single submitter clinical testing In silico analysis indicates that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge; This variant is associated with the following publications: (PMID: 31046843)
Zotz-Klimas Genetics Lab, MVZ Zotz Klimas RCV003389068 SCV004101133 uncertain significance Sessile serrated polyposis cancer syndrome 2023-11-02 no assertion criteria provided clinical testing

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.