ClinVar Miner

Submissions for variant NM_002834.4(PTPN11):c.505del (p.His169fs) (rs1566168783)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000681427 SCV000808890 pathogenic not provided 2018-08-02 criteria provided, single submitter clinical testing The c.505delC pathogenic variant in the PTPN11 gene causes a frameshift starting with codon Histidine 169, changes this amino acid to a Methionine residue and creates a premature Stop codon at position 3 of the new reading frame, denoted p. His169MetfsX3. This pathogenic variant is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. The c.505delC variant is not observed in large population cohorts (Lek et al., 2016). Therefore, this variant is pathogenic.

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