ClinVar Miner

Submissions for variant NM_002834.5(PTPN11):c.327T>G (p.Ser109=)

gnomAD frequency: 0.00002  dbSNP: rs1039250039
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000587505 SCV000698074 likely benign not specified 2019-08-29 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001432258 SCV001635023 likely benign RASopathy 2025-01-22 criteria provided, single submitter clinical testing
Ambry Genetics RCV002448824 SCV002611481 likely benign Cardiovascular phenotype 2019-05-21 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.
Fulgent Genetics, Fulgent Genetics RCV002491168 SCV002796168 likely benign Noonan syndrome 1; Juvenile myelomonocytic leukemia; Metachondromatosis; LEOPARD syndrome 1 2021-11-29 criteria provided, single submitter clinical testing

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