Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
MOLECULAR BIOLOGY LABORATORY, |
RCV000207368 | SCV000262704 | likely pathogenic | Mucopolysaccharidosis, MPS-II | 2015-10-18 | criteria provided, single submitter | research | Likely pathogenic variation identified in a Hunter syndrome male patient with I2S deficiency and mental retardation. No seizures, nor hydrocephaly. Pathogenicity clues: Highly conserved nucleotide (phyloP: 0.84 [-5.2;1.1]); Highly conserved amino acid, up to Fruitfly (considering 12 species); Moderate physicochemical difference between His and Tyr (Grantham dist.: 83 [0-215]); This variant is in protein domains: Sulfatase, Type I phosphodiesterase/nucleotide pyrophosphatase/phosphate transferase, Alkaline-phosphatase-like, core domain, Align GVGD: C0 (GV: 251.03 - GD: 25.33); SIFT: Deleterious (score: 0.03, median: 3.51); MutationTaster: disease causing (p-value: 1); Polyphen prediction: Probably Damaging (HumDiv score 0.999) |