ClinGen Dosage Sensitivity Curation Page

SMAD2

  • Curation Status: Complete

Location Information

Select assembly: (NC_000018.9) (NC_000018.10)
  • Haploinsufficiency score: 0
  • Strength of Evidence (disclaimer): No evidence for dosage pathogenicity

Haploinsufficiency phenotype comments:

Zaidi et al [PMID: 23665959, 2013] performed a case-control study of individuals with congenital heart disease by trio exome sequencing and identified two affected subjects with de novo pathogenic variants in SMAD2. One individual had a splice donor site variant, p.IVS6+1 G>A, and the second individual had a missense variant, p.Trp244Cys. There is no discussion about the possible functional consequences of these variants, and it is not clear whether they result in functional haploinsufficiency. At this time, there is no literature regarding focal deletion or loss-of-function variants resulting in haploinsufficiency of SMAD2. Therefore, the current dosage score given is 0.

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

Triplosensitivity phenotype comment:

At this time, there is no literature regarding focal gain of SMAD2. Therefore, the current dosage score given is 0.