ClinVar Miner

Submissions for variant NM_002834.5(PTPN11):c.881A>G (p.Asp294Gly)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV006348093 SCV007215779 uncertain significance Cardiovascular phenotype 2025-12-11 criteria provided, single submitter clinical testing The p.D294G variant (also known as c.881A>G), located in coding exon 8 of the PTPN11 gene, results from an A to G substitution at nucleotide position 881. The aspartic acid at codon 294 is replaced by glycine, an amino acid with similar properties. This amino acid position is conserved. In addition, this alteration is predicted to be deleterious by in silico analysis. Based on the available evidence, the clinical significance of this variant remains unclear.
Fulgent Genetics, Fulgent Genetics RCV005004826 SCV005632294 uncertain significance Noonan syndrome 1; Juvenile myelomonocytic leukemia; Metachondromatosis; LEOPARD syndrome 1 2024-03-13 criteria provided, single submitter clinical testing

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