ClinVar Miner

Submissions for variant NM_001001548.3(CD36):c.1181_1185dup (p.Glu397fs)

dbSNP: rs757570230
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000288701 SCV000470099 uncertain significance Platelet-type bleeding disorder 10 2016-10-27 criteria provided, single submitter clinical testing The CD36 c.1181_1185dupAGCCA (p.Glu397HisfsTer8) variant results in a frameshift and is predicted to result in premature termination of the protein. A literature search was performed for the gene, cDNA change, and amino acid change. No publications were found based on this search. The variant is reported at a frequency of 0.000101 in the European (non-Finnish) population of the Exome Aggregation Consortium. 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 frameshift variants and the lack of clarifying evidence, this variant is classified as a variant 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.
Revvity Omics, Revvity RCV000288701 SCV002025118 likely pathogenic Platelet-type bleeding disorder 10 2020-12-04 criteria provided, single submitter clinical testing
Laboratory of Medical Genetics, National & Kapodistrian University of Athens RCV000288701 SCV005091074 likely pathogenic Platelet-type bleeding disorder 10 2024-01-08 criteria provided, single submitter clinical testing PVS1, PM2 - The variant has been reported in ClinVar by other laboratories (Variation ID 360768) and was detected in trans with NM_001127443.1:c.1079T>G variant.
Breakthrough Genomics, Breakthrough Genomics RCV004696039 SCV005195611 uncertain significance not provided criteria provided, single submitter not provided
Clinical Genetics Laboratory, Skane University Hospital Lund RCV004696039 SCV005197931 pathogenic not provided 2023-01-16 criteria provided, single submitter clinical testing

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