ClinVar Miner

Submissions for variant NM_000202.8(IDS):c.1003C>T (p.His335Tyr) (rs869025302)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
MOLECULAR BIOLOGY LABORATORY,INSTITUTO NACIONAL DE PEDIATRIA 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)

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