ClinVar Miner

Submissions for variant NM_002834.4(PTPN11):c.211T>G (p.Phe71Val) (rs397507512)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000159044 SCV000208986 pathogenic not provided 2014-07-17 criteria provided, single submitter clinical testing The F71V mutation has not been published as a mutation, nor has it been reported as a benign polymorphism to our knowledge. The F71V mutation was not observed in approximately 6,500 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, indicating it is not a common benign variant in these populations. The F71V mutation is a semi-conservative amino acid substitution, which may impact secondary protein structure as these residues differ in some properties. This substitution occurs at a position that is conserved across species. In silico analysis predicts this variant is probably damaging to the protein structure/function. Missense mutations in this residue and in nearby residues (Y63C, E69Q, E69V, F71I, F71L, A72G, A72P, A72S, T73I, E76A, E76D, E76G, E76V) have been reported in association with PTPN11-related disorders, supporting the functional importance of this region of the protein. Therefore, F71V is considered to be a disease-causing mutation. The variant is found in NOONAN panel(s).

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