ClinVar Miner

Submissions for variant NM_002834.5(PTPN11):c.1496C>T (p.Ser499Phe)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV001526964 SCV001737742 uncertain significance not specified 2021-06-14 criteria provided, single submitter clinical testing Variant summary: PTPN11 c.1496C>T (p.Ser499Phe) results in a non-conservative amino acid change located in the PTP type protein phosphatase (IPR000242) of the encoded protein sequence. Five of five in-silico tools predict a damaging effect of the variant on protein function. The variant was absent in 251492 control chromosomes (gnomAD). c.1496C>T has been reported in the literature in a father and a son both affected with Noonan Syndrome (Kruszka_2017) as well as in an individual affected with Autism Spectrum Disorder (ASD) (Geisheker_2017) . These data indicate that the variant may be associated with disease. To our knowledge, no experimental evidence demonstrating an impact on protein function has been reported. One ClinVar submitter (evaluation after 2014) cites the variant as likely pathogenic. Based on the evidence outlined above, the variant was classified as VUS-possibly pathogenic.
Service de Génétique Moléculaire,Hôpital Robert Debré RCV001261021 SCV001438418 likely pathogenic Noonan syndrome no assertion criteria provided clinical testing

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