ClinVar Miner

Submissions for variant NM_022788.5(P2RY12):c.794G>C (p.Arg265Pro)

gnomAD frequency: 0.00001  dbSNP: rs755459581
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Northern Blood Research Centre, University of Sydney RCV000661901 SCV000680034 pathogenic Platelet-type bleeding disorder 8 2017-05-25 criteria provided, single submitter research This novel dominant negative variant confirms the important role of R265 in EL3 in the functional integrity of the P2Y12R and suggests that pathological heterodimer formation may underlie the observed bleeding phenotype in affected individuals.
NIHR Bioresource Rare Diseases, University of Cambridge RCV000851950 SCV000899371 likely pathogenic Impaired ADP-induced platelet aggregation 2019-02-01 criteria provided, single submitter research
Mendelics RCV000661901 SCV002517837 pathogenic Platelet-type bleeding disorder 8 2022-05-04 criteria provided, single submitter clinical testing

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