ClinVar Miner

Submissions for variant NM_017831.4(RNF125):c.488C>T (p.Ser163Leu)

gnomAD frequency: 0.00001  dbSNP: rs373764886
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 3
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000162242 SCV000821319 uncertain significance Tenorio syndrome 2021-09-02 criteria provided, single submitter clinical testing This sequence change replaces serine with leucine at codon 163 of the RNF125 protein (p.Ser163Leu). The serine residue is moderately conserved and there is a large physicochemical difference between serine and leucine. This variant is present in population databases (rs373764886, ExAC 0.006%). This missense change has been observed in individual(s) with overgrowth syndrome (PMID: 25196541). ClinVar contains an entry for this variant (Variation ID: 183421). Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Possibly Damaging"; Align-GVGD: "Class C0"). 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.
Breakthrough Genomics, Breakthrough Genomics RCV004692769 SCV005193296 uncertain significance not provided criteria provided, single submitter not provided
OMIM RCV000162242 SCV000212233 pathogenic Tenorio syndrome 2014-12-01 no assertion criteria provided literature only

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.