ClinVar Miner

Submissions for variant NM_001001547.3(CD36):c.1410_1414AATAA[1] (p.Lys472fs) (rs771061715)

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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 RCV000853360 SCV000996228 likely pathogenic Platelet glycoprotein IV deficiency 2018-12-21 criteria provided, single submitter clinical testing This nonsense/frameshift mutation is found in the last exon of CD36 and the functional consequence of this variant is therefore difficult to predict. 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 0.04% (99/274816). 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.1415_1419del (p.Lys472SerfsTer35) variant is classified as likely pathogenic.

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