Submissions for variant NM_022788.5(P2RY12):c.772C>A (p.Pro258Thr)

gnomAD frequency: 0.00001  dbSNP: rs202099742

Total submissions: 5

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Labcorp Genetics (formerly Invitae), Labcorp	RCV001703090	SCV005834228	uncertain significance	not provided	2024-03-21	criteria provided, single submitter	clinical testing	This sequence change replaces proline, which is neutral and non-polar, with threonine, which is neutral and polar, at codon 258 of the P2RY12 protein (p.Pro258Thr). This variant is present in population databases (rs202099742, gnomAD 0.007%). This missense change has been observed in individual(s) with clinical features of P2RY12-related conditions (PMID: 17311506, 25567036, 30431218). ClinVar contains an entry for this variant (Variation ID: 988856). 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. 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.
Birmingham Platelet Group; University of Birmingham	RCV001270569	SCV001450868	pathogenic	Abnormal bleeding; Thrombocytopenia	2020-05-01	no assertion criteria provided	research
Genome Diagnostics Laboratory, University Medical Center Utrecht	RCV001703090	SCV001931473	pathogenic	not provided		no assertion criteria provided	clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+	RCV001703090	SCV001954043	pathogenic	not provided		no assertion criteria provided	clinical testing
ISTH-SSC Genomics in Thrombosis and Hemostasis, KU Leuven, Center for Molecular and Vascular Biology	RCV002264773	SCV002546496	likely pathogenic	Platelet-type bleeding disorder 8		no assertion criteria provided	research