ClinVar Miner

Submissions for variant NM_000202.8(IDS):c.1445T>G (p.Leu482Ter)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV003509082 SCV004299007 pathogenic Mucopolysaccharidosis, MPS-II 2023-07-18 criteria provided, single submitter clinical testing Algorithms developed to predict the effect of variants on protein structure and function are not available or were not evaluated for this variant. For these reasons, this variant has been classified as Pathogenic. Experimental studies have shown that this premature translational stop signal affects IDS function (PMID: 31895584). This premature translational stop signal has been observed in individual(s) with Hunter syndrome (PMID: 9660053, 33676511). This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Leu482*) in the IDS gene. While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 69 amino acid(s) of the IDS protein.
Laboratory of Diagnosis and Therapy of Lysosomal Disorders, University of Padova RCV003509082 SCV005089587 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_Strong)

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