ClinVar Miner

Submissions for variant NM_002834.5(PTPN11):c.1705T>C (p.Cys569Arg)

dbSNP: rs1420924484
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Center for Advanced Laboratory Medicine, UC San Diego Health, University of California San Diego RCV000852688 SCV000995397 likely benign Arrhythmogenic right ventricular cardiomyopathy 2017-12-22 criteria provided, single submitter clinical testing
Invitae RCV002536192 SCV003304575 uncertain significance RASopathy 2023-06-15 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 not expected to disrupt PTPN11 protein function. ClinVar contains an entry for this variant (Variation ID: 691730). 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 0.0009%). This sequence change replaces cysteine, which is neutral and slightly polar, with arginine, which is basic and polar, at codon 569 of the PTPN11 protein (p.Cys569Arg).

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