ClinVar Miner

Submissions for variant NM_000202.8(IDS):c.353C>T (p.Thr118Ile)

dbSNP: rs2520895871
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Revvity Omics, Revvity RCV003146149 SCV003829500 likely pathogenic Mucopolysaccharidosis, MPS-II 2022-03-17 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003420582 SCV004108362 likely pathogenic IDS-related disorder 2023-06-16 criteria provided, single submitter clinical testing The IDS c.353C>T variant is predicted to result in the amino acid substitution p.Thr118Ile. This variant was reported in an individual with Mucopolysaccharidosis II, severe phenotype (Froissart et al. 1998. PubMed ID: 9660053) and in another individual with Mucopolysaccharidosis II, mild phenotype (Villani et al. 2000. PubMed ID: 10838181). In vitro expression studies in COS7 cells show that this variant results in significantly decreased enzymatic activity, 6.7% of wild type (Villani et al. 2000. PubMed ID: 10838181). This variant has not been reported in a large population database (http://gnomad.broadinstitute.org), indicating this variant is rare. This variant is interpreted as likely pathogenic.
Laboratory of Diagnosis and Therapy of Lysosomal Disorders, University of Padova RCV003146149 SCV005089001 pathogenic Mucopolysaccharidosis, MPS-II 2024-06-07 criteria provided, single submitter literature only De novo (PS2_Moderate), Absent from controls (or at low frequency) in gnomAD database (PM2_Moderate), Missense variant in a gene with a low rate of benign missense variation (PP2_Supporting), Multiple lines of computational evidence support a deleterious effect (PP3_Supporting), Patient’s phenotype or family history highly specific for the disease (PP4_Strong)

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