ClinVar Miner

Submissions for variant NM_000202.8(IDS):c.1123G>T (p.Glu375Ter)

dbSNP: rs782634993
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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 RCV001950793 SCV002231468 pathogenic Mucopolysaccharidosis, MPS-II 2021-08-07 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. This premature translational stop signal has been observed in individual(s) with mucopolysaccharidosis type II (PMID: 8111411, 30639582). This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Glu375*) in the IDS gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in IDS are known to be pathogenic (PMID: 8940265, 9875019).
Laboratory of Diagnosis and Therapy of Lysosomal Disorders, University of Padova RCV001950793 SCV005089442 pathogenic Mucopolysaccharidosis, MPS-II 2024-06-07 criteria provided, single submitter literature only Null variant (PVS1_VeryStrong), De novo (PS2_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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