Total submissions: 7
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, |
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, |
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. |
Gene |
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) |
Prevention |
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, |
RCV000034724 | SCV000043401 | variant of unknown significance | not provided | 2012-07-13 | no assertion criteria provided | research | Converted during submission to Uncertain significance. |