ClinVar Miner

Submissions for variant NM_002834.5(PTPN11):c.583G>A (p.Glu195Lys)

gnomAD frequency: 0.00001  dbSNP: rs1181200121
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002038323 SCV002317390 uncertain significance RASopathy 2022-07-12 criteria provided, single submitter clinical testing This sequence change replaces glutamic acid, which is acidic and polar, with lysine, which is basic and polar, at codon 195 of the PTPN11 protein (p.Glu195Lys). 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: 1519552). This variant has not been reported in the literature in individuals affected with PTPN11-related conditions. This variant is present in population databases (no rsID available, gnomAD 0.007%).

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