ClinVar Miner

Submissions for variant NM_002834.5(PTPN11):c.289G>C (p.Glu97Gln)

gnomAD frequency: 0.00001  dbSNP: rs397507516
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000033482 SCV000057387 uncertain significance not provided 2018-02-08 criteria provided, single submitter clinical testing The E97Q missense change in the PTPN11 gene has not been reported as a disease-causing mutation or as a benign polymorphism to our knowledge. The E97Q amino acid substitution is non-conservative with a negatively charged residue (Glu) being replaced by a neutral residue (Gln) at a residue of the protein that is conserved. However, no other mutations have been reported in close proximity to this codon. The variant is found in NOONAN panel(s).
Fulgent Genetics, Fulgent Genetics RCV002496499 SCV002792313 uncertain significance Noonan syndrome 1; Juvenile myelomonocytic leukemia; Metachondromatosis; LEOPARD syndrome 1 2022-02-02 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002513325 SCV003442072 uncertain significance RASopathy 2023-06-14 criteria provided, single submitter clinical testing 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. Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is expected to disrupt PTPN11 protein function. ClinVar contains an entry for this variant (Variation ID: 40505). This missense change has been observed in individual(s) with clinical features of PTPN11-related conditions (PMID: 27876779). This variant is present in population databases (rs397507516, gnomAD 0.002%). This sequence change replaces glutamic acid, which is acidic and polar, with glutamine, which is neutral and polar, at codon 97 of the PTPN11 protein (p.Glu97Gln).

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