Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
MOLECULAR BIOLOGY LABORATORY, |
RCV000207405 | SCV000262705 | likely pathogenic | Mucopolysaccharidosis, MPS-II | 2015-10-18 | criteria provided, single submitter | research | Likely pathogenic variation identified in a Hunter syndrome male patient without I2S evaluation. He presents mental retardation, but no seizures, nor hydrocephaly. Pathogenicity clues: Highly conserved nucleotide (phyloP: 0.96 [-5.2;1.1]); Highly conserved amino acid, up to Fruitfly (considering 12 species); Moderate physicochemical difference between His and Pro (Grantham dist.: 77 [0-215]); This variant is in protein domains: Sulfatase, Alkaline-phosphatase-like, core domain, Align GVGD: C0 (GV: 353.86 - GD: 0.00); SIFT: Deleterious (score: 0, median: 3.50); MutationTaster: disease causing (p-value: 1); PolyPhen prediction: Probably Damaging (score 1.0) |