ClinVar Miner

Submissions for variant NM_000202.8(IDS):c.1425G>A (p.Trp475Ter)

dbSNP: rs199422230
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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 RCV000011241 SCV001480461 pathogenic Mucopolysaccharidosis, MPS-II criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000011241 SCV002133833 pathogenic Mucopolysaccharidosis, MPS-II 2021-10-23 criteria provided, single submitter clinical testing This variant disrupts a region of the IDS protein in which other variant(s) (p.Leu530Phefs*8) have been determined to be pathogenic (PMID: 7581397, 17284421; external communication). This suggests that this is a clinically significant region of the protein, and that variants that disrupt it are likely to be disease-causing. ClinVar contains an entry for this variant (Variation ID: 10495). This premature translational stop signal has been observed in individual(s) with Hunter syndrome (PMID: 1303211). This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Trp475*) in the IDS gene. While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 76 amino acid(s) of the IDS protein. For these reasons, this variant has been classified as Pathogenic.
Laboratory of Diagnosis and Therapy of Lysosomal Disorders, University of Padova RCV000011241 SCV005089569 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)
OMIM RCV000011241 SCV000031468 pathogenic Mucopolysaccharidosis, MPS-II 1992-08-01 no assertion criteria provided literature only

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