ClinVar Miner

Submissions for variant NM_002900.3(RBP3):c.2763C>A (p.Ser921Arg)

dbSNP: rs548622709
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
Labcorp Genetics (formerly Invitae), Labcorp RCV001307856 SCV001497284 uncertain significance not provided 2023-07-03 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. An algorithm developed to predict the effect of missense changes on protein structure and function (PolyPhen-2) suggests that this variant is likely to be disruptive. ClinVar contains an entry for this variant (Variation ID: 208321). This missense change has been observed in individual(s) with retinitis pigmentosa (PMID: 19074801). This variant is present in population databases (rs548622709, gnomAD 0.006%). This sequence change replaces serine, which is neutral and polar, with arginine, which is basic and polar, at codon 921 of the RBP3 protein (p.Ser921Arg).
ClinVar Staff, National Center for Biotechnology Information (NCBI) RCV000206998 SCV000244072 uncertain significance Retinitis pigmentosa 66 2013-06-27 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.