ClinVar Miner

Submissions for variant NM_001001547.3(CD36):c.1150del (p.Ala384fs) (rs551607784)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego RCV000853359 SCV000996227 likely pathogenic Platelet glycoprotein IV deficiency 2018-12-21 criteria provided, single submitter clinical testing This frameshifting variant in exon 15 of 17 introduces a premature stop codon and is therefore predicted to result in loss of normal protein function. This variant has not been previously reported or functionally characterized in the literature to our knowledge. It is present in the heterozygous state in the gnomAD population database at a frequency of 0.05% (139/275630), but as high as 0.5% (132/23932) in the African population sampled. This allele frequency is in keeping with high overall prevalence of CD36 deficiency in African and certain other populations. Based on the available evidence, the c.1150del (p.Ala384GlnfsTer19) variant is classified as likely pathogenic.

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