Description
The PTPN11 c.1530G>C variant is predicted to result in the amino acid substitution p.Gln510His. This variant has been reported in multiple individuals with Noonan syndrome with or without multiple lentigines (Table 1, Wakabayashi et al. 2011. PubMed ID: 21910226; Table 3, Chinton et al. 2019. PubMed ID: 31560489; Table S2, Kauffman et al. 2020. PubMed ID: 33318624). Moreover, this variant has been reported as having arisen de novo in an individual with Noonan syndrome with multiple lentigines (Table 1, Li et al. 2019. PubMed ID: 31263281). This variant has not been reported in a large population database, indicating this variant is rare. This variant has been classified as pathogenic by an expert panel in ClinVar (https://www.ncbi.nlm.nih.gov/clinvar/variation/40567/). Alternate nucleotide changes affecting the same amino acid (p.Gln510Glu, p.Gln510Pro, and p.Gln510Arg) have been reported in multiple individuals with Noonan syndrome with or without multiple lentigines (Digilio et al. 2006. PubMed ID: 16733669; Keren et al. 2004. PubMed ID: 15520399; Bertola et al. 2005. PubMed ID: 15948193). In summary, the p.Gln510His variant is interpreted as pathogenic.
| # | Sample | Method | Observation |
|---|
| Origin | Affected | Number tested | Tissue | Purpose | Method | Individuals | Allele frequency | Families | Co-occurrences |
|---|
| 1 | germline | unknown | not provided | not provided | not provided | | not provided | not provided | not provided | not provided |
