ClinVar Miner

Submissions for variant NM_000202.8(IDS):c.838_842del (p.Asn280fs)

dbSNP: rs2089436271
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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 RCV001066509 SCV001231522 pathogenic Mucopolysaccharidosis, MPS-II 2019-03-25 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. Loss-of-function variants in IDS are known to be pathogenic (PMID: 8940265, 9875019). This sequence change creates a premature translational stop signal (p.Asn280Glnfs*60) in the IDS gene. It is expected to result in an absent or disrupted protein product. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with IDS-related conditions.
Laboratory of Diagnosis and Therapy of Lysosomal Disorders, University of Padova RCV001066509 SCV005089269 pathogenic Mucopolysaccharidosis, MPS-II 2024-06-07 criteria provided, single submitter literature only Null variant (PVS1_VeryStrong), 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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