ClinVar Miner

Submissions for variant NM_002834.5(PTPN11):c.519C>G (p.Arg173=)

gnomAD frequency: 0.00002  dbSNP: rs767425313
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000606201 SCV000731911 likely benign not specified 2017-08-23 criteria provided, single submitter clinical testing p.Arg173Arg in exon 4 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 0.03% (5/16512) o f South Asian chromosomes by the Exome Aggregation Consortium (ExAC, http://exac .broadinstitute.org; dbSNP rs767425313).
Labcorp Genetics (formerly Invitae), Labcorp RCV001466747 SCV001670756 likely benign RASopathy 2024-07-02 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002498983 SCV002808109 likely benign Noonan syndrome 1; Juvenile myelomonocytic leukemia; Metachondromatosis; LEOPARD syndrome 1 2021-12-14 criteria provided, single submitter clinical testing
Ambry Genetics RCV005260249 SCV005922104 likely benign Cardiovascular phenotype 2025-02-16 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.

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