ClinVar Miner

Submissions for variant NM_002834.4(PTPN11):c.226G>C (p.Glu76Gln) (rs121918464)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000159045 SCV000208987 pathogenic not provided 2014-08-04 criteria provided, single submitter clinical testing he E76Q missense mutation has not be reported as a benign polymorphism or as a disease-causing mutation, to our knowledge. The E76Q missense change is a non-conservative amino acid substitution with a negatively charged residue (Glu) being replaced by a neutral residue (Gln). It lies in the N-SH2 domain of the gene, which is a hot spot for Noonan syndrome mutations. Several other missense mutations at this codon (E76A, E76K and E76V) have been reported as somatic mutations in association with juvenile myelomonocytic leukemia (JMML) and other hematologic malignancies (Mori et al., 2004 and Tartaglia et al., 2006). However, another missense mutation at this codon (E76D) has been reported previously as a germline mutation in association with Noonan syndrome (Tartaglia et al., 2001 and Tartaglia et al., 2006). The variant is found in NOONAN panel(s).

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