ClinVar Miner

Submissions for variant NM_000202.8(IDS):c.1181-1G>A

dbSNP: rs864622777
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
IIFP, CONICET-UNLP RCV000204452 SCV000262536 pathogenic Mucopolysaccharidosis, MPS-II 2011-12-05 criteria provided, single submitter research
Labcorp Genetics (formerly Invitae), Labcorp RCV000204452 SCV004299010 pathogenic Mucopolysaccharidosis, MPS-II 2023-06-13 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. Variants that disrupt the consensus splice site are a relatively common cause of aberrant splicing (PMID: 17576681, 9536098). Studies have shown that disruption of this splice site results in activation of a cryptic splice site and introduces a new termination codon (PMID: 7728156, 27883178). However the mRNA is not expected to undergo nonsense-mediated decay. ClinVar contains an entry for this variant (Variation ID: 221218). Disruption of this splice site has been observed in individual(s) with mucopolysaccharidosis type II (PMID: 7728156, 17063374, 27883178, 34813777, 35144014). This variant is not present in population databases (gnomAD no frequency). This sequence change affects an acceptor splice site in intron 8 of the IDS gene. RNA analysis indicates that disruption of this splice site induces altered splicing and likely disrupts the C-terminus of the protein.
Laboratory of Diagnosis and Therapy of Lysosomal Disorders, University of Padova RCV000204452 SCV005089460 likely 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_Moderate)
Pediatrics, All India Institute of Medical Sciences, New Delhi RCV000204452 SCV001573801 affects Mucopolysaccharidosis, MPS-II 2014-04-12 no assertion criteria provided research The change c.1181-1G>A is a known splice donor variant. This mutation is due to substitution of G to A at nucleotide position c.1181-1G>A in the intron 8 of IDS gene. It was detected in a hemizygous state in one patient with attenuated phenotype from Delhi, India.

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