ClinVar Miner

Submissions for variant NM_000202.8(IDS):c.361C>T (p.Gln121Ter)

dbSNP: rs2124063075
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001387354 SCV001587966 pathogenic Mucopolysaccharidosis, MPS-II 2020-03-08 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. Loss-of-function variants in IDS are known to be pathogenic (PMID: 8940265, 9875019). This variant has been observed in individual(s) with IDS-related conditions (PMID: 22976768, 28077157). This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Gln121*) in the IDS gene. It is expected to result in an absent or disrupted protein product.
Laboratory of Diagnosis and Therapy of Lysosomal Disorders, University of Padova RCV001387354 SCV005089008 pathogenic Mucopolysaccharidosis, MPS-II 2024-06-07 criteria provided, single submitter literature only Null variant (PVS1_VeryStrong), Prevalence of the variant significantly increased in affected individuals compared with controls (PS4_Supporting), 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)

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