ClinVar Miner

Submissions for variant NM_002834.5(PTPN11):c.585A>C (p.Glu195Asp)

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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 RCV006657006 SCV007555492 uncertain significance Cardiovascular phenotype 2026-03-03 criteria provided, single submitter clinical testing The p.E195D variant (also known as c.585A>C), located in coding exon 5 of the PTPN11 gene, results from an A to C substitution at nucleotide position 585. The glutamic acid at codon 195 is replaced by aspartic acid, an amino acid with highly similar properties. This amino acid position is conserved. In addition, the in silico prediction for this alteration is inconclusive. Based on the available evidence, the clinical significance of this variant remains unclear.
Fulgent Genetics, Fulgent Genetics RCV005006808 SCV005632284 uncertain significance Noonan syndrome 1; Juvenile myelomonocytic leukemia; Metachondromatosis; LEOPARD syndrome 1 2024-01-20 criteria provided, single submitter clinical testing

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