ClinVar Miner

Submissions for variant NM_001001548.3(CD36):c.1254+1G>A

gnomAD frequency: 0.00004  dbSNP: rs148051111
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Revvity Omics, Revvity RCV000779543 SCV002025110 likely pathogenic Platelet-type bleeding disorder 10 2019-07-24 criteria provided, single submitter clinical testing
GeneDx RCV004722813 SCV005332344 likely pathogenic not provided 2023-06-29 criteria provided, single submitter clinical testing Canonical splice site variant predicted to result in a null allele in a gene for which loss of function is a known mechanism of disease; Has not been previously published as pathogenic or benign to our knowledge; This variant is associated with the following publications: (PMID: 31589614)
Division of Human Genetics, Children's Hospital of Philadelphia RCV000477879 SCV000536864 likely pathogenic Platelet-type bleeding disorder 10; Coronary heart disease, susceptibility to, 7; Malaria, susceptibility to 2016-03-26 no assertion criteria provided research
PreventionGenetics, part of Exact Sciences RCV004551576 SCV004115600 likely pathogenic CD36-related disorder 2024-03-23 no assertion criteria provided clinical testing The CD36 c.1254+1G>A variant is predicted to disrupt the GT donor site and interfere with normal splicing. This variant was reported, heterozygous, in multiple individuals undergoing preconception carrier screening (Capalbo et al. 2019. PubMed ID: 31589614). It is unclear if any of these individuals were affected or if they carried additional variants in the CD36 gene. This variant is reported in 0.023% of alleles in individuals of European (Non-Finnish) descent in gnomAD. Variants that disrupt the consensus splice donor site in CD36 are expected to be pathogenic. This variant is interpreted as likely pathogenic.

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