ClinVar Miner

Submissions for variant NM_001001547.3(CD36):c.429+2T>C (rs3211893)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Division of Human Genetics,Children's Hospital of Philadelphia RCV000477775 SCV000536929 likely pathogenic Platelet glycoprotein IV deficiency; Coronary heart disease 7; Susceptibility to malaria 2016-08-06 no assertion criteria provided research
Reproductive Health Research and Development,BGI Genomics RCV000991166 SCV001142372 likely pathogenic Platelet glycoprotein IV deficiency 2020-01-06 no assertion criteria provided curation NG_008192.1(NM_001001547.2):c.429+2T>C in the CD36 gene has an allele frequency of 0.007 in African subpopulation, and in 0.0006977 global alleles in the gnomAD database. The c.429+2T>C variant destroys the canonical splice donor site. It is predicted to cause abnormal gene splicing, either leading to an abnormal message that is subject to nonsense-mediated mRNA decay or to an abnormal protein product if the message is used for protein translation. Taken together, we interprete this variant as Pathogenic/Likely pathogenic. ACMG/AMP Criteria applied: PVS1; PM2.

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