ClinVar Miner

Submissions for variant NM_000202.8(IDS):c.1327C>T (p.Arg443Ter)

dbSNP: rs199422227
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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
IIFP, CONICET-UNLP RCV000011232 SCV000262530 pathogenic Mucopolysaccharidosis, MPS-II 2012-12-13 criteria provided, single submitter research
Invitae RCV000011232 SCV000940520 pathogenic Mucopolysaccharidosis, MPS-II 2023-06-29 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. ClinVar contains an entry for this variant (Variation ID: 10486). This premature translational stop signal has been observed in individuals with mucopolysaccharidosis II (PMID: 1303211, 18500569, 21291454, 21829674, 27146977). This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Arg443*) in the IDS gene. While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 108 amino acid(s) of the IDS protein.
Department of Medical Genetics, Sanjay Gandhi Post Graduate Institute of Medical Sciences RCV000011232 SCV001480523 pathogenic Mucopolysaccharidosis, MPS-II criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV000011232 SCV002014470 pathogenic Mucopolysaccharidosis, MPS-II 2021-09-05 criteria provided, single submitter clinical testing
Institute of Human Genetics, University Hospital Muenster RCV002287330 SCV002577793 pathogenic Abnormality of lysosomal metabolism 2021-12-20 criteria provided, single submitter clinical testing ACMG categories: PVS1,PM2,PP5
OMIM RCV000011232 SCV000031459 pathogenic Mucopolysaccharidosis, MPS-II 1993-01-01 no assertion criteria provided literature only
Beijing Key Laboratory for Genetic Research of Skeletal Deformity, Peking Union Medical College Hospital RCV000011232 SCV001482335 pathogenic Mucopolysaccharidosis, MPS-II 2019-05-31 no assertion criteria provided research
Natera, Inc. RCV001831559 SCV002084457 pathogenic Mucopolysaccharidosis, MPS-III-A 2020-12-08 no assertion criteria provided clinical testing

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