ClinVar Miner

Submissions for variant NM_006245.4(PPP2R5D):c.271C>T (p.Arg91Cys)

gnomAD frequency: 0.00004  dbSNP: rs750265500
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
GeneDx RCV001641304 SCV001859583 benign not provided 2019-08-13 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001641304 SCV002247104 uncertain significance not provided 2023-09-29 criteria provided, single submitter clinical testing ClinVar contains an entry for this variant (Variation ID: 1242500). 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. This variant is also known as c.448C>T (p.Arg150Cys). This missense change has been observed in individual(s) with neurodevelopmental disorder (PMID: 33004838). This variant is present in population databases (rs750265500, gnomAD 0.05%). This sequence change replaces arginine, which is basic and polar, with cysteine, which is neutral and slightly polar, at codon 91 of the PPP2R5D protein (p.Arg91Cys).

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.