Submissions for variant NM_001001548.3(CD36):c.1079T>G (p.Leu360Ter)

gnomAD frequency: 0.00017  dbSNP: rs56381858

Total submissions: 9

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Illumina Laboratory Services, Illumina	RCV000779539	SCV000916207	uncertain significance	Platelet-type bleeding disorder 10	2018-12-03	criteria provided, single submitter	clinical testing	The CD36 c.1079T>G (p.Leu360Ter) stop gained variant causes a premature truncation of the protein product. A literature search was performed for the gene, cDNA change, and amino acid change. No publications were found with individuals with platelet glycoprotein IV deficiency. This variant is reported at a frequency of 0.001396 in the Other population of the Genome Aggregation Database. Based on the variant frequency, disease prevalence, disease penetrance, and inheritance mode, this variant could not be ruled out of causing disease. Due to the potential impact of unknown significance but suspicious for pathogenicity for platelet glycoprotein IV deficiency. This variant was observed by ICSL as part of a predisposition screen in an ostensibly healthy population.
CeGaT Center for Human Genetics Tuebingen	RCV001312122	SCV001502576	pathogenic	not provided	2023-07-01	criteria provided, single submitter	clinical testing	CD36: PVS1, PM2
Baylor Genetics	RCV000779539	SCV003834966	pathogenic	Platelet-type bleeding disorder 10	2021-05-19	criteria provided, single submitter	clinical testing
Institute of Human Genetics, University of Leipzig Medical Center	RCV000779539	SCV004027742	pathogenic	Platelet-type bleeding disorder 10	2023-07-04	criteria provided, single submitter	clinical testing	Criteria applied: PVS1,PM2_SUP,PM3_SUP
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center	RCV000779539	SCV004807219	likely pathogenic	Platelet-type bleeding disorder 10	2024-03-26	criteria provided, single submitter	clinical testing
Neuberg Centre For Genomic Medicine, NCGM	RCV000779539	SCV005073951	likely pathogenic	Platelet-type bleeding disorder 10		criteria provided, single submitter	clinical testing	The stop gained variant c.1079T>G(p.Leu360Ter) in CD36 gene has been reported in multiple individulas affected with CD36 related disorders (Xu et. al., 2021; Chien et al., 2012; Leprêtre et. al., 2004). The observed variant has allele frequency of 0.02% in gnomAD exomes database. This variant has been submitted to the ClinVar database as Uncertain Significance / Likely Pathogenic / Pathogenic. The nucleotide change c.1079T>G in CD36 is predicted as conserved by GERP++ and PhyloP across 100 vertebrates. This variant is predicted to cause loss of normal protein function through protein truncation. Loss of function variants have been previously reported to be disease causing. However, additional functional studies will be required to confirm the pathogenicity of the variant. For these reasons, this variant has been classified as Likely Pathogenic.
Laboratory of Medical Genetics, National & Kapodistrian University of Athens	RCV000779539	SCV005091073	pathogenic	Platelet-type bleeding disorder 10	2024-01-08	criteria provided, single submitter	clinical testing	PVS1, PS4, PM2, PP5 - The variant has been reported in ClinVar by other laboratories (Variation ID 632507) and was detected in trans with NM_001127443.1:c.1181_1185dup variant.
Clinical Genetics Laboratory, Skane University Hospital Lund	RCV001312122	SCV005197405	pathogenic	not provided	2023-06-12	criteria provided, single submitter	clinical testing
Zotz-Klimas Genetics Lab, MVZ Zotz Klimas	RCV000779539	SCV004099449	pathogenic	Platelet-type bleeding disorder 10	2023-10-30	no assertion criteria provided	clinical testing