ClinVar Miner

Submissions for variant NM_002834.5(PTPN11):c.1547T>C (p.Met516Thr)

gnomAD frequency: 0.00001  dbSNP: rs994514579
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001214373 SCV001386050 uncertain significance RASopathy 2023-09-09 criteria provided, single submitter clinical testing This variant is present in population databases (no rsID available, gnomAD 0.003%). This sequence change replaces methionine, which is neutral and non-polar, with threonine, which is neutral and polar, at codon 516 of the PTPN11 protein (p.Met516Thr). This variant has not been reported in the literature in individuals affected with PTPN11-related conditions. 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: 944057).

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