Submissions for variant NM_006206.6(PDGFRA):c.661C>T (p.Leu221Phe)

gnomAD frequency: 0.00307  dbSNP: rs139913632

Total submissions: 16

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Invitae	RCV000204480	SCV000261839	benign	Gastrointestinal stromal tumor	2024-02-01	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000290148	SCV000449710	benign	Idiopathic hypereosinophilic syndrome	2018-01-12	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	RCV000204480	SCV000449711	likely benign	Gastrointestinal stromal tumor	2018-01-12	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 likely benign is not then subjected to further curation. The score for this variant resulted in a classification of likely benign for this disease.
Ambry Genetics	RCV001025460	SCV001187654	benign	Hereditary cancer-predisposing syndrome	2018-10-18	criteria provided, single submitter	clinical testing	This alteration is classified as benign based on a combination of the following: seen in unaffected individuals, 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.
St. Jude Molecular Pathology, St. Jude Children's Research Hospital	RCV000204480	SCV001439194	likely benign	Gastrointestinal stromal tumor	2020-08-19	criteria provided, single submitter	clinical testing
GeneDx	RCV000034723	SCV001797169	likely benign	not provided	2021-04-05	criteria provided, single submitter	clinical testing	In silico analysis, which includes protein predictors and evolutionary conservation, supports that this variant does not alter protein structure/function; This variant is associated with the following publications: (PMID: 22718859, 27449473, 22703879, 25111073)
Genetic Services Laboratory, University of Chicago	RCV000121797	SCV002064877	benign	not specified	2021-06-17	criteria provided, single submitter	clinical testing
Sema4, Sema4	RCV001025460	SCV002538580	benign	Hereditary cancer-predisposing syndrome	2020-07-21	criteria provided, single submitter	curation
CeGaT Center for Human Genetics Tuebingen	RCV000034723	SCV004150639	likely benign	not provided	2024-04-01	criteria provided, single submitter	clinical testing	PDGFRA: BP4, BS2
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV000034723	SCV004564959	likely benign	not provided	2023-11-20	criteria provided, single submitter	clinical testing
Biesecker Lab/Clinical Genomics Section, National Institutes of Health	RCV000034723	SCV000043400	variant of unknown significance	not provided	2012-07-13	flagged submission	research	Converted during submission to Uncertain significance.
ITMI	RCV000121797	SCV000085995	not provided	not specified	2013-09-19	no assertion provided	reference population
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen	RCV000034723	SCV001742146	likely benign	not provided		no assertion criteria provided	clinical testing
Genome Diagnostics Laboratory, Amsterdam University Medical Center	RCV000034723	SCV001808135	likely benign	not provided		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV000034723	SCV001969563	likely benign	not provided		no assertion criteria provided	clinical testing
Dept. of Cytogenetics, ICMR- National Institute of Immunohaematology	RCV002284182	SCV002573651	pathogenic	Myeloproliferative neoplasm, unclassifiable	2022-08-25	flagged submission	clinical testing