ClinVar Miner

Submissions for variant NM_002834.5(PTPN11):c.1460A>G (p.Asp487Gly) (rs730880994)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000159055 SCV000208997 likely pathogenic not provided 2013-09-08 criteria provided, single submitter clinical testing D487G has not been published as a mutation, nor has it been reported as a benign polymorphism to our knowledge. It represents a non-conservative amino acid change in that a polar Aspartic acid residue is replaced with a non-polar Glycine residue at a position in the tyrosine protein phosphatase domain that is highly conserved across species. Additionally, in silico models predict this change is damaging, and mutations in the nearby Proline 491 codon have been reported in association with Noonan syndrome. The variant is found in NOONAN panel(s).

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