Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Pediatrics, |
RCV001375851 | SCV001572772 | likely pathogenic | Mucopolysaccharidosis, MPS-II | 2014-09-01 | no assertion criteria provided | research | The change c.1254_1254delT (p.P419Hfs*21) was found to be a novel small frame-shift deletion variant, where a single base deletion leads to frameshift change in the ORF of the translated peptide leading to the substitution of a cyclic nonpolar neutral amino acid Proline at 419 position by aromatic basic polar amino acid Histidine. This leads to a change in peptide sequence and formation of a stop codon after 21 amino acid downstream of the variant. In silico analysis by the web tool Mutation Taster characterise it as a "Disease causing" pathogenic variant. It was detected in one patient with severe phenotype from Delhi, India. |