ClinVar Miner

Submissions for variant NM_000202.8(IDS):c.1025A>C (p.His342Pro) (rs869025303)

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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 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)

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