ClinVar Miner

Submissions for variant NM_001001548.3(CD36):c.1254+1G>A

gnomAD frequency: 0.00004  dbSNP: rs148051111
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000779543 SCV000916212 uncertain significance Platelet-type bleeding disorder 10 2018-11-06 criteria provided, single submitter clinical testing This variant occurs in a canonical splice site (donor) and is therefore predicted to disrupt or distort the normal gene product. It was observed by ICSL as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018) and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score for this variant, it could not be ruled out of causing disease and therefore its association with disease required further investigation. A literature search was performed for the gene and cDNA change. No publications were found based on this search. Due to the potential impact of splice donor variants and the lack of clarifying evidence, this variant is classified as a variant of unknown significance but suspicious for pathogenicity for this disease.
Revvity Omics, Revvity RCV000779543 SCV002025110 likely pathogenic Platelet-type bleeding disorder 10 2019-07-24 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV004551576 SCV004115600 likely pathogenic CD36-related disorder 2023-04-24 criteria provided, single submitter clinical testing The CD36 c.1254+1G>A variant is predicted to disrupt the GT donor site and interfere with normal splicing. This variant was reported, heterozygous, in multiple individuals undergoing preconception carrier screening (Capalbo et al. 2019. PubMed ID: 31589614). It is unclear if any of these individuals were affected or if they carried additional variants in the CD36 gene. This variant is reported in 0.023% of alleles in individuals of European (Non-Finnish) descent in gnomAD (http://gnomad.broadinstitute.org/variant/7-80302726-G-A). Variants that disrupt the consensus splice donor site in CD36 are expected to be pathogenic. This variant is interpreted as likely pathogenic.
Division of Human Genetics, Children's Hospital of Philadelphia RCV000477879 SCV000536864 likely pathogenic Platelet-type bleeding disorder 10; Coronary heart disease, susceptibility to, 7; Malaria, susceptibility to 2016-03-26 no assertion criteria provided research

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