Submissions for variant NM_001001548.3(CD36):c.949dup (p.Ile317fs)

dbSNP: rs70961716

Total submissions: 4

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Illumina Laboratory Services, Illumina	RCV000014497	SCV000916206	likely pathogenic	Platelet-type bleeding disorder 10	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.
Revvity Omics, Revvity	RCV000014497	SCV002025116	likely pathogenic	Platelet-type bleeding disorder 10	2020-03-26	criteria provided, single submitter	clinical testing
Juno Genomics, Hangzhou Juno Genomics, Inc	RCV000014497	SCV005871502	likely pathogenic	Platelet-type bleeding disorder 10		criteria provided, single submitter	clinical testing	PVS1+PM3+PP4+BS1
OMIM	RCV000014497	SCV000034748	pathogenic	Platelet-type bleeding disorder 10	2002-04-01	no assertion criteria provided	literature only