Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Pediatrics, |
RCV001375631 | SCV001572556 | likely pathogenic | Mucopolysaccharidosis, MPS-II | 2014-02-01 | no assertion criteria provided | research | The change c.205_206insAAACTGGCAT, (p.S69*fs) was found to be a novel small frame-shift insertion, where a 10 base insertion leads to frameshift change in the ORF of the translated peptide leading to substitution of a hydroxyl-containing polar neutral amino acid Serine at 69 position by a stop codon leading to truncation of the protein. It was detected in hemizygous state in two of the severely affected sibs in a family from Uttrakhand state of India. |