ClinGen Dosage Sensitivity Curation Page


  • Curation Status: Complete

Location Information

Select assembly: (NC_000006.11) (NC_000006.12)

Haploinsufficiency phenotype comments:

Homozygous or compound heterozygous loss-of-function variants in the MUT gene cause autosomal recessive methylmalonic acidemia (GeneReviews). Most pathogenic variants are sequence-level changes, although Acquaviva et al. observed an exon-level deletion in a patient who also carried a pathogenic splicing variant (c.2124+1G>A) on the opposite allele.

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