ClinGen Dosage Sensitivity Curation Page

MET

  • Curation Status: Complete

Location Information

Select assembly: (NC_000007.13) (NC_000007.14)
  • Haploinsufficiency score: 0
  • Strength of Evidence (disclaimer): No evidence for dosage pathogenicity

Haploinsufficiency phenotype comments:

PMID:17053076: A heterozygous noncoding MET point mutation is associated with Susceptibility to Autism 9 (MIM 611015) and functional analysis suggested this variant causes reduced MET expression, however further studies are necessary to determine whether MET haploinsufficiency is linked to this phenotype.

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