ClinGen Dosage Sensitivity Curation Page

SOS1

  • Curation Status: Complete

Location Information

Select assembly: (NC_000002.11) (NC_000002.12)
  • Haploinsufficiency score: 0
  • Strength of Evidence (disclaimer): No evidence for dosage pathogenicity
Evidence for haploinsufficiency phenotype
PubMed ID Description
21387466 Per this reference, all SOS1 mutations that have been described in association with Noonan syndrome have been missense mutations that are thought to result in gain of function. No nonsense or deletion mutations have been described at this time.

Haploinsufficiency phenotype comments:

There has been a report of an insertion mutation that introduced a frameshift and created a premature stop codon in association with hereditary gingival fibromatosis (PMID: 11868160). Please note that the ISCA loss of function score has been assigned based on the Noonan syndrome phenotype.

  • Triplosensitivity score: 0
  • Strength of Evidence (disclaimer): No evidence for dosage pathogenicity