ClinVar Miner

Submissions for variant NM_002834.5(PTPN11):c.1715T>C (p.Met572Thr)

gnomAD frequency: 0.00001  dbSNP: rs1415602777
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001053742 SCV001218018 uncertain significance RASopathy 2023-12-06 criteria provided, single submitter clinical testing This sequence change replaces methionine, which is neutral and non-polar, with threonine, which is neutral and polar, at codon 572 of the PTPN11 protein (p.Met572Thr). This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with PTPN11-related conditions. ClinVar contains an entry for this variant (Variation ID: 849717). An algorithm developed to predict the effect of missense changes on protein structure and function (PolyPhen-2) suggests that this variant is likely to be tolerated. 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.
New York Genome Center RCV001263385 SCV001441428 uncertain significance Intellectual disability 2020-02-11 criteria provided, single submitter clinical testing

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