ClinVar Miner

Submissions for variant NM_001042492.3(NF1):c.7585C>T (p.Pro2529Ser)

gnomAD frequency: 0.00001  dbSNP: rs1555536370
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 4
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000632341 SCV000753518 uncertain significance Neurofibromatosis, type 1 2022-07-19 criteria provided, single submitter clinical testing This variant has not been reported in the literature in individuals affected with NF1-related conditions. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Tolerated"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). ClinVar contains an entry for this variant (Variation ID: 527467). This variant is not present in population databases (gnomAD no frequency). This sequence change replaces proline, which is neutral and non-polar, with serine, which is neutral and polar, at codon 2508 of the NF1 protein (p.Pro2508Ser).
Ambry Genetics RCV002388016 SCV002669121 uncertain significance Hereditary cancer-predisposing syndrome; Cardiovascular phenotype 2020-12-17 criteria provided, single submitter clinical testing The p.P2508S variant (also known as c.7522C>T), located in coding exon 50 of the NF1 gene, results from a C to T substitution at nucleotide position 7522. The proline at codon 2508 is replaced by serine, an amino acid with similar properties. This amino acid position is highly conserved in available vertebrate species. In addition, the in silico prediction for this alteration is inconclusive. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
Fulgent Genetics, Fulgent Genetics RCV002499043 SCV002812923 uncertain significance Neurofibromatosis, familial spinal; Juvenile myelomonocytic leukemia; Neurofibromatosis, type 1; Neurofibromatosis-Noonan syndrome; Café-au-lait macules with pulmonary stenosis 2021-09-11 criteria provided, single submitter clinical testing
GeneDx RCV003327435 SCV004034480 uncertain significance not provided 2023-03-07 criteria provided, single submitter clinical testing Not observed at significant frequency in large population cohorts (gnomAD); 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: 25486365)

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.