ClinVar Miner

Submissions for variant NM_002834.5(PTPN11):c.1303G>A (p.Val435Met)

dbSNP: rs1054802954
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV001820655 SCV002068132 uncertain significance not specified 2020-05-05 criteria provided, single submitter clinical testing DNA sequence analysis of the PTPN11 gene demonstrated a sequence change, c.1303G>A, in exon 11 that results in an amino acid change, p.Val435Met. This sequence change does not appear to have been previously described in patients with PTPN11-related disorders. This sequence change is absent from the large population databases such as ExAC and gnomAD (dbSNP rs1054802954). The p.Val435Met change affects a highly conserved amino acid residue located in a domain of the PTPN11 protein that is known to be functional. The p.Val435Met substitution appears to be deleterious using several in-silico pathogenicity prediction tools (SIFT, PolyPhen2, Align GVGD, REVEL). Due to these evidences and the lack of functional studies, the clinical significance of the p.Val435Met change remains unknown at this time.
Fulgent Genetics, Fulgent Genetics RCV005006076 SCV005632300 uncertain significance Noonan syndrome 1; Juvenile myelomonocytic leukemia; Metachondromatosis; LEOPARD syndrome 1 2024-05-13 criteria provided, single submitter clinical testing

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