ClinVar Miner

Submissions for variant NM_022788.5(P2RY12):c.793C>T (p.Arg265Trp)

gnomAD frequency: 0.00001  dbSNP: rs121917886
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
Mendelics RCV002247282 SCV002518424 uncertain significance not specified 2022-05-04 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002512947 SCV003525372 uncertain significance not provided 2022-07-10 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. Experimental studies have shown that this missense change affects P2RY12 function (PMID: 12578987, 29117459). Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be disruptive. ClinVar contains an entry for this variant (Variation ID: 9083). This missense change has been observed in individual(s) with bleeding disorder (PMID: 12578987, 32100410). This variant is present in population databases (rs121917886, gnomAD 0.006%). This sequence change replaces arginine, which is basic and polar, with tryptophan, which is neutral and slightly polar, at codon 265 of the P2RY12 protein (p.Arg265Trp).
OMIM RCV000009651 SCV000029869 pathogenic Platelet-type bleeding disorder 8 2017-06-14 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.