ClinVar Miner

Submissions for variant NM_002834.4(PTPN11):c.217A>C (p.Thr73Pro) (rs397507513)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000033474 SCV000057379 pathogenic not provided 2013-02-07 criteria provided, single submitter clinical testing The T73P mutation has not been reported as a disease-causing mutation or as a benign polymorphism, to our knowledge. A different missense mutation at this codon (T73I) has been reported previously in association with Noonan syndrome and in a single patient reported to have Noonan-like/multiple giant cell lesion syndrome (NS/MGCLS) (Tartaglia et al., 2002; Bufalino et al., 2010). Additionally, T73I is the most common mutation found in infants with Noonan syndrome / Myeloproliferative disease (MPD), having been identified in 8 out of 19 children studied (Kratz et al., 2005). The T73P missense change is a non-conservative amino acid substitution that affects a highly evolutionarily conserved residue within a known functional domain of the PTPN11 protein. As another missense mutation at this codon has also been published in association with PTPN11-related disorders, T73P is interpreted as a disease-causing mutation.The variant is found in NOONAN panel(s).

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