ClinVar Miner

Submissions for variant NM_001001547.3(CD36):c.949dup (p.Ile317fs) (rs70961716)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Clinical Services Laboratory,Illumina RCV000014497 SCV000916206 likely pathogenic Platelet glycoprotein IV deficiency 2018-11-21 criteria provided, single submitter clinical testing The CD36 c.949dupA (p.Ile317AsnfsTer36) variant results in a frameshift and is predicted to result in premature termination of the protein. The variant has been reported in two studies in which it is found in four individuals affected with platelet glycoprotein IV deficiency. Hanawa et al. (2002) reported a family with an affected mother who was homozygous for p.Ile317AsnfsTer36 variant and two affected children who carried the variant in a compound heterozygous state with a pathogenic missense variant. Kashiwagi et al. (1996) reported an additional individual who carried the p.Ile317AsnfsTer36 variant in a compound heterozygote state with a second null allele. Control data are unavailable for this variant, which is reported at a frequency of 0.000816 in the East Asian population of the Exome Aggregation Consortium. Based on the potential impact of frameshift variants and evidence, the p.Ile317AsnfsTer36 variant is classified as likely pathogenic for platelet glycoprotein IV deficiency. This variant was observed by ICSL as part of a predisposition screen in an ostensibly healthy population.
OMIM RCV000014497 SCV000034748 pathogenic Platelet glycoprotein IV deficiency 2002-04-01 no assertion criteria provided literature only

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