Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Pediatrics, |
RCV001375873 | SCV001572774 | likely pathogenic | Mucopolysaccharidosis, MPS-II | 2014-11-01 | no assertion criteria provided | research | The variant c.356_356delT (p.I119Tfs*11) was found to be a novel small frame-shift deletion, where a single base deletion leads to frameshift change in the ORF of the translated peptide leading to the substitution of aliphatic nonpolar neutral amino acid Isoleucine at 119 position by a hydroxyl-containing polar neutral amino acid Threonine. This leads to change in peptide sequence and formation of a stop codon change at 11 amino acid downstream of the mutation. In silico analysis by the web tool Mutation Taster characterise it as a "Disease causing" pathogenic variant. It was detected in one patient with attenuated phenotype from Uttar Pradesh,India. |