ClinVar Miner

Submissions for variant NM_000202.8(IDS):c.1402del (p.Arg468fs)

dbSNP: rs2123994397
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001382698 SCV001581600 pathogenic Mucopolysaccharidosis, MPS-II 2020-08-05 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. This variant has been observed to be hemizygous in individuals affected with MPS II (PMID: 21291454, Invitae). This variant is not present in population databases (ExAC no frequency). This sequence change results in a premature translational stop signal in the IDS gene (p.Arg468Glyfs*15). While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 83 amino acids of the IDS protein.
Laboratory of Diagnosis and Therapy of Lysosomal Disorders, University of Padova RCV001382698 SCV005089552 likely pathogenic Mucopolysaccharidosis, MPS-II 2024-06-07 criteria provided, single submitter literature only Null variant (PVS1_Strong), 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)

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