ClinVar Miner

Submissions for variant NM_001001547.3(CD36):c.1156C>T (p.Arg386Trp) (rs148910227)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 1
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Clinical Services Laboratory,Illumina RCV000779542 SCV000916210 likely pathogenic Platelet glycoprotein IV deficiency 2018-09-19 criteria provided, single submitter clinical testing The CD36 c.1156C>T (p.Arg386Trp) missense variant has been reported in three studies and found in a total of five individuals with platelet glycoprotein IV deficiency, including two in a compound heterozygous state and three in a heterozygous state (Okajima et al 2006; Xu et al. 2013; Li et al. 2015). The three patients reported in Okajima et al. 2006 includes a mother with type I deficiency (surface deficiency of protein on both platelets and monocytes) in whom the p.Arg386Trp variant is found in trans with a deletion variant and two heterozygous siblings. Heterozygous individuals exhibit type II phenotype (surface deficiency of protein on platelets only) (Okajima et al. 2006; Li et a. 2015). Control data are unavailable for this variant, which is reported at a frequency of 0.002976 in the East Asian population of the 1000 Genomes Project. The two siblings demonstrated 50% normal levels of CD36 on platelets and monocytes, which is consistent with the p.Arg386Trp variant being causative of the platelet glycoprotein IV deficiency (Okajima et al 2006). Based on the collective evidence, the p.Arg386Trp is classified as likely pathogenic for platelet glycoprotein IV deficiency disease. This variant was observed by ICSL as part of a predisposition screen in an ostensibly healthy population.

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.