ClinVar Miner

Submissions for variant NM_000276.4(OCRL):c.1082G>T (p.Arg361Ile)

dbSNP: rs137853832
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 2
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV003330423 SCV004037796 uncertain significance not specified 2023-08-31 criteria provided, single submitter clinical testing Variant summary: OCRL c.1082G>T (p.Arg361Ile) results in a non-conservative amino acid change located in the Inositol polyphosphate-related phosphatase domain (IPR000300) of the encoded protein sequence. Five of five in-silico tools predict a damaging effect of the variant on protein function. The variant was absent in 183407 control chromosomes (gnomAD). The available data on variant occurrences in the general population are insufficient to allow any conclusion about variant significance. c.1082G>T has been reported in the literature occuring in cis with another OCRL variant (c.1009C>T [p.Arg337Cys], ClinVar:68695, likely pathogenic) in an individual affected with Lowe Syndrome (Hichri_2011). This report does not provide unequivocal conclusions about association of the variant with Dent Disease. To our knowledge, no experimental evidence demonstrating an impact on protein function has been reported. The following publication has been ascertained in the context of this evaluation (PMID: 21031565). No submitters have cited clinical-significance assessments for this variant to ClinVar after 2014. Based on the evidence outlined above, the variant was classified as uncertain significance.
UniProtKB/Swiss-Prot RCV000059579 SCV000091111 not provided Lowe syndrome no assertion provided not provided

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.