ClinVar Miner

Submissions for variant NM_002834.5(PTPN11):c.518G>A (p.Arg173His)

gnomAD frequency: 0.00001  dbSNP: rs369155025
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001061667 SCV001226417 uncertain significance RASopathy 2023-01-08 criteria provided, single submitter clinical testing This sequence change replaces arginine, which is basic and polar, with histidine, which is basic and polar, at codon 173 of the PTPN11 protein (p.Arg173His). 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: 856249). This variant has not been reported in the literature in individuals affected with PTPN11-related conditions. This variant is present in population databases (rs369155025, gnomAD 0.01%).
GeneDx RCV001547358 SCV001767044 uncertain significance not provided 2022-12-29 criteria provided, single submitter clinical testing The majority of missense variants in this gene are considered pathogenic (HGMD); In silico analysis supports that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge; This variant is associated with the following publications: (PMID: 29493581)

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