ClinVar Miner

Submissions for variant NM_000202.8(IDS):c.1591C>T (p.Gln531Ter)

dbSNP: rs886044837
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000359304 SCV000337945 pathogenic not provided 2015-11-23 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001775755 SCV002014462 pathogenic Mucopolysaccharidosis, MPS-II 2021-09-05 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001775755 SCV004299004 likely pathogenic Mucopolysaccharidosis, MPS-II 2022-11-16 criteria provided, single submitter clinical testing In summary, the currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as Likely Pathogenic. Experimental studies have shown that this premature translational stop signal affects IDS function (PMID: 17091340). Algorithms developed to predict the effect of variants on protein structure and function are not available or were not evaluated for this variant. ClinVar contains an entry for this variant (Variation ID: 285082). This premature translational stop signal has been observed in individual(s) with mucopolysaccharidosis type II (PMID: 7581397). This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Gln531*) in the IDS gene. While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 20 amino acid(s) of the IDS protein.
Laboratory of Diagnosis and Therapy of Lysosomal Disorders, University of Padova RCV001775755 SCV005089640 pathogenic Mucopolysaccharidosis, MPS-II 2024-06-07 criteria provided, single submitter literature only Null variant (PVS1_Strong), In vitro or in vivo functional studies supportive of a damaging effect (PS3_Moderate), 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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