Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000479964 | SCV000564591 | likely pathogenic | not provided | 2015-07-23 | criteria provided, single submitter | clinical testing | The I67N variant is a non-conservative amino acid substitution, which is likely to impact secondary protein structure as these residues differ in polarity, charge, size and/or other properties. This substitution occurs at a position where amino acids with similar properties to Isoleucine are tolerated across species. In silico analysis predicts this variant is probably damaging to the protein structure/function. Missense mutations in nearby residues (S65F, L72P/Q/R) have been reported in the Human Gene Mutation Database in association with mucopolysaccharidosis VI (MPS VI) (Stenson et al., 2014), supporting the functional importance of this region of the protein. |