ClinVar Miner

Submissions for variant NM_000202.8(IDS):c.143G>C (p.Arg48Pro) (rs1569560528)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Integrated Genetics/Laboratory Corporation of America RCV000780348 SCV000917536 likely pathogenic Mucopolysaccharidosis, MPS-II 2018-03-30 criteria provided, single submitter clinical testing Variant summary: IDS c.143G>C (p.Arg48Pro) results in a non-conservative amino acid change in the Sulfatase, N-terminal domain of the encoded protein sequence. Five of five in-silico tools predict a damaging effect of the variant on protein function. The variant was absent in 65161 control chromosomes. The c.143G>C has been reported in the literature in an individual presented with a mild form of Mucopolysaccharidosis Type II (Hunter Syndrome) (Isogai_1998, Sukegawa_1995). At least one publication reports experimental evidence evaluating an impact on protein function. The R48P failed to be processed to mature form leading to residual activity 0.22.4% of the wild-type IDS activity in patient's fibroblasts (Sukegava_1995; Sukegawa-Hasayaka_2006). No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar after 2014. Based on the evidence outlined above, the variant was classified as likely pathogenic.

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