ClinVar Miner

Submissions for variant NM_006206.6(PDGFRA):c.1731G>A (p.Pro577=)

gnomAD frequency: 0.00105  dbSNP: rs55830582
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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000227877 SCV000289169 benign Gastrointestinal stromal tumor 2024-02-01 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000227877 SCV000449748 benign Gastrointestinal stromal tumor 2018-01-13 criteria provided, single submitter clinical testing This variant was observed in the ICSL laboratory 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 and internal cut-off values, a variant classified as benign is not then subjected to further curation. The score for this variant resulted in a classification of benign for this disease.
Illumina Laboratory Services, Illumina RCV000372647 SCV000449749 benign Idiopathic hypereosinophilic syndrome 2018-01-13 criteria provided, single submitter clinical testing This variant was observed in the ICSL laboratory 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 and internal cut-off values, a variant classified as benign is not then subjected to further curation. The score for this variant resulted in a classification of benign for this disease.
Ambry Genetics RCV001012892 SCV001173406 benign Hereditary cancer-predisposing syndrome 2018-11-30 criteria provided, single submitter clinical testing This alteration is classified as benign based on a combination of the following: population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
GeneDx RCV001358148 SCV001784846 likely benign not provided 2020-09-22 criteria provided, single submitter clinical testing
Department of Pathology and Laboratory Medicine, Sinai Health System RCV001358148 SCV001553811 uncertain significance not provided no assertion criteria provided clinical testing Variant was observed in a homozygous state in population databases more than expected for disease. Allele frequency is greater than expected for the disorder. A synonymous variant not located in a splice region.
Genetic Services Laboratory, University of Chicago RCV003150996 SCV003839819 likely benign not specified 2022-07-22 no assertion criteria provided clinical testing

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