ClinVar Miner

Submissions for variant NM_000202.8(IDS):c.814C>T (p.Gln272Ter)

dbSNP: rs2089436689
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory of Diagnosis and Therapy of Lysosomal Disorders, University of Padova RCV001291009 SCV005089255 pathogenic Mucopolysaccharidosis, MPS-II 2024-06-07 criteria provided, single submitter literature only Null variant (PVS1_VeryStrong), Absent from controls (or at low frequency) in gnomAD database (PM2_Moderate), Patient’s phenotype or family history highly specific for the disease (PP4_Strong)
Dasa RCV001291009 SCV002097272 pathogenic Mucopolysaccharidosis, MPS-II 2022-02-14 criteria provided, single submitter clinical testing The c.814C>T;p.(Gln272*) variant creates a premature translational stop signal in the IDS gene. It is expected to result in an absent or disrupted protein product - PVS1. This sequence change has been observed in affected individual(s) and ClinVar contains an entry for this variant (ClinVar ID: 988685) - PS4. This variant is not present in population databases (gnomAD; ABraOM no frequency - http://abraom.ib.usp.br/) - PM2. In summary, the currently available evidence indicates that the variant is pathogenic.
Laboratory of Inherited Metabolic Diseases, Research centre for medical genetics RCV001291009 SCV001450612 pathogenic Mucopolysaccharidosis, MPS-II no assertion criteria provided research

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