ClinVar Miner

Submissions for variant NM_000202.8(IDS):c.1505G>A (p.Trp502Ter)

dbSNP: rs199422228
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Department of Medical Genetics, Sanjay Gandhi Post Graduate Institute of Medical Sciences RCV001568371 SCV001480464 pathogenic Mucopolysaccharidosis, MPS-II criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001568371 SCV002014465 pathogenic Mucopolysaccharidosis, MPS-II 2021-09-05 criteria provided, single submitter clinical testing
Laboratory of Diagnosis and Therapy of Lysosomal Disorders, University of Padova RCV001568371 SCV005089618 likely pathogenic Mucopolysaccharidosis, MPS-II 2024-06-07 criteria provided, single submitter literature only Null variant (PVS1_Strong), 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_Moderate)
Labcorp Genetics (formerly Invitae), Labcorp RCV001568371 SCV005842369 pathogenic Mucopolysaccharidosis, MPS-II 2024-12-10 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Trp502*) in the IDS gene. While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 49 amino acid(s) of the IDS protein. This variant is not present in population databases (gnomAD no frequency). This premature translational stop signal has been observed in individual(s) with Hunter syndrome (PMID: 7492967, 9660053, 21829674, 35144014). ClinVar contains an entry for this variant (Variation ID: 997034). For these reasons, this variant has been classified as Pathogenic.

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