ClinVar Miner

Submissions for variant NM_001001548.3(CD36):c.971C>G (p.Ser324Ter)

dbSNP: rs751804837
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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 RCV001823466 SCV002072917 likely pathogenic Platelet-type bleeding disorder 10 criteria provided, single submitter clinical testing The stop gained p.S324* in CD36 (NM_001001547.3) has not been reported previously as a pathogenic variant nor as a benign variant, to our knowledge. The p.S324* variant is observed in 5/30,600 (0.0163%) alleles from individuals of South Asian background in gnomAD Exomes and is novel (not in any individuals) in 1000 Genomes. This variant is predicted to cause loss of normal protein function through protein truncation. For these reasons, this variant has been classified as Likely Pathogenic.

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