ClinVar Miner

Submissions for variant NM_000202.8(IDS):c.1393C>T (p.Gln465Ter)

dbSNP: rs864622772
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
IIFP, CONICET-UNLP RCV000205510 SCV000262514 pathogenic Mucopolysaccharidosis, MPS-II 2013-10-30 criteria provided, single submitter research
Invitae RCV000205510 SCV000825696 pathogenic Mucopolysaccharidosis, MPS-II 2018-06-19 criteria provided, single submitter clinical testing This variant is not present in population databases (ExAC no frequency). This variant has been observed in individuals affected with mucopolysaccharidosis type II (PMID: 8830188, 17063374, Invitae). ClinVar contains an entry for this variant (Variation ID: 221202). Other truncations (p.Met488Serfs*11, p.Tyr523Leufs*6 and p.Leu530Phefs*8) that lie downstream of this variant have been reported in individuals affected with mucopolysaccharidosis type II (PMID: 27246110, 8940265, 17284421). For these reasons, this variant has been classified as Pathogenic. This sequence change results in a premature translational stop signal in the IDS gene (p.Gln465*). While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 86 amino acids of the IDS protein.
GeneDx RCV001008649 SCV001168424 pathogenic not provided 2022-05-16 criteria provided, single submitter clinical testing Nonsense variant in the C-terminus predicted to result in protein truncation, as the last 85 amino acids are lost, and other variants have been reported downstream in the Human Gene Mutation Database (HGMD); Not observed in large population cohorts (gnomAD); This variant is associated with the following publications: (PMID: 25681085, 17063374, 9950361, 8830188, 27896113)
Genome-Nilou Lab RCV000205510 SCV002014469 pathogenic Mucopolysaccharidosis, MPS-II 2021-09-05 criteria provided, single submitter clinical testing
Laboratory of Diagnosis and Therapy of Lysosomal Disorders, University of Padova RCV000205510 SCV005089544 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_Strong)

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