ClinVar Miner

Submissions for variant NM_001001548.3(CD36):c.1126-1G>A

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Neuberg Centre For Genomic Medicine, NCGM RCV004577204 SCV005061111 likely pathogenic Platelet-type bleeding disorder 10 criteria provided, single submitter clinical testing The invariant splice acceptor c.1126-1G>A in CD36 gene not been reported previously as a pathogenic variant nor as a benign variant, to our knowledge. The observed variant is absent in gnomAD exomes database. It has not been submitted to the ClinVar database. SpliceAI predicts a damaging effect with an acceptor gain score of 1.00 for this variant. Loss of function variants have been previously reported to be disease causing. For these reasons, this variant has been classified as Likely Pathogenic.

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