ClinVar Miner

Submissions for variant NM_006206.6(PDGFRA):c.896T>C (p.Val299Ala)

gnomAD frequency: 0.00006  dbSNP: rs200033396
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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001079833 SCV000289228 likely benign Gastrointestinal stromal tumor 2024-01-24 criteria provided, single submitter clinical testing
Ambry Genetics RCV001018574 SCV001179828 uncertain significance Hereditary cancer-predisposing syndrome 2018-11-07 criteria provided, single submitter clinical testing The p.V299A variant (also known as c.896T>C), located in coding exon 5 of the PDGFRA gene, results from a T to C substitution at nucleotide position 896. The valine at codon 299 is replaced by alanine, an amino acid with similar properties. This amino acid position is not well conserved in available vertebrate species. In addition, this alteration is predicted to be tolerated by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
Illumina Laboratory Services, Illumina RCV001144051 SCV001304627 likely benign Idiopathic hypereosinophilic syndrome 2017-04-28 criteria provided, single submitter clinical testing This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases allowed determination this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign.
Illumina Laboratory Services, Illumina RCV001079833 SCV001306661 likely benign Gastrointestinal stromal tumor 2017-04-28 criteria provided, single submitter clinical testing This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases allowed determination this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign.
GeneDx RCV000034724 SCV002599975 uncertain significance not provided 2022-05-07 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge; This variant is associated with the following publications: (PMID: 22703879)
PreventionGenetics, part of Exact Sciences RCV003944885 SCV004761507 likely benign PDGFRA-related condition 2023-11-15 criteria provided, single submitter clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).
Biesecker Lab/Clinical Genomics Section, National Institutes of Health RCV000034724 SCV000043401 variant of unknown significance not provided 2012-07-13 no assertion criteria provided research Converted during submission to Uncertain significance.

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