ClinVar Miner

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

dbSNP: rs2089436689
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
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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