ClinVar Miner

Submissions for variant NM_001001548.3(CD36):c.696_698dup (p.Gly232_Lys233insAsn)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Fulgent Genetics, Fulgent Genetics RCV005040764 SCV005674268 uncertain significance Platelet-type bleeding disorder 10; Coronary heart disease, susceptibility to, 7; Malaria, susceptibility to 2024-04-12 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV004739763 SCV005345652 uncertain significance CD36-related disorder 2024-06-07 no assertion criteria provided clinical testing The CD36 c.696_698dupTAA variant is predicted to result in an in-frame duplication (p.Gly232_Lys233insAsn). To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.028% of alleles in individuals of African descent in gnomAD. At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence.

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