ClinVar Miner

Submissions for variant NM_002834.5(PTPN11):c.1011G>A (p.Thr337=)

gnomAD frequency: 0.00001  dbSNP: rs371951288
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 5
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics, part of Exact Sciences RCV000252825 SCV000309199 likely benign not specified criteria provided, single submitter clinical testing
GeneDx RCV000680322 SCV000516291 likely benign not provided 2016-09-08 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Labcorp Genetics (formerly Invitae), Labcorp RCV001410326 SCV001612371 likely benign RASopathy 2024-09-03 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002500898 SCV002808375 likely benign Noonan syndrome 1; Juvenile myelomonocytic leukemia; Metachondromatosis; LEOPARD syndrome 1 2021-10-20 criteria provided, single submitter clinical testing
Ambry Genetics RCV003362737 SCV004080310 likely benign Cardiovascular phenotype 2023-06-17 criteria provided, single submitter clinical testing This alteration is classified as likely 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.

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.