ClinVar Miner

Submissions for variant NM_002834.5(PTPN11):c.990A>C (p.Thr330=)

gnomAD frequency: 0.00005  dbSNP: rs369739920
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Total submissions: 10
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001711218 SCV000057426 benign not provided 2019-06-10 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000220386 SCV000270777 likely benign not specified 2016-01-29 criteria provided, single submitter clinical testing p.Thr330Thr in exon 9 of PTPN11: This variant is not expected to have clinical s ignificance because it does not alter an amino acid residue and is not located w ithin the splice consensus sequence. It has been identified in 2/11546 Latino an d 2/8650 East Asian chromosomes by the Exome Aggregation Consortium (ExAC, http: //exac.broadinstitute.org; dbSNP rs369739920).
PreventionGenetics, part of Exact Sciences RCV000220386 SCV000309218 likely benign not specified criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000220386 SCV000698088 likely benign not specified 2020-08-30 criteria provided, single submitter clinical testing
Invitae RCV000033521 SCV000776919 likely benign RASopathy 2024-01-05 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV001711218 SCV002049688 likely benign not provided 2023-10-23 criteria provided, single submitter clinical testing
Genome Diagnostics Laboratory, The Hospital for Sick Children RCV001813253 SCV002060829 uncertain significance Noonan syndrome and Noonan-related syndrome 2018-05-01 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV000220386 SCV002068880 likely benign not specified 2018-04-04 criteria provided, single submitter clinical testing
Ambry Genetics RCV002381281 SCV002694587 likely benign Cardiovascular phenotype 2019-09-20 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.
KCCC/NGS Laboratory, Kuwait Cancer Control Center RCV003315538 SCV004017224 benign Juvenile myelomonocytic leukemia 2023-07-07 criteria provided, single submitter clinical testing

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