ClinVar Miner

Submissions for variant NM_002834.5(PTPN11):c.489C>T (p.Gly163=)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001210345 SCV001381828 likely pathogenic Rasopathy 2019-06-08 criteria provided, single submitter clinical testing This sequence change affects codon 163 of the PTPN11 mRNA. It is a 'silent' change, meaning that it does not change the encoded amino acid sequence of the PTPN11 protein. This variant is not present in population databases (ExAC no frequency). This variant has been observed to be de novo in an individual affected with clinical features of metachondromatosis (Invitae). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site, but this prediction has not been confirmed by published transcriptional studies. In summary, the currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as Likely Pathogenic.

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