ClinVar Miner

Submissions for variant NM_000202.8(IDS):c.1327C>T (p.Arg443Ter) (rs199422227)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
LISIN Facultad de Ciencias Exactas, Universidad Nacional de La Plata RCV000011232 SCV000262530 pathogenic Mucopolysaccharidosis, MPS-II 2012-12-13 criteria provided, single submitter research
Invitae RCV000011232 SCV000940520 pathogenic Mucopolysaccharidosis, MPS-II 2019-10-20 criteria provided, single submitter clinical testing This sequence change results in a premature translational stop signal in the IDS gene (p.Arg443*). While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 108 amino acids of the IDS protein. This variant is not present in population databases (ExAC no frequency). This variant has been observed in individuals affected with mucopolysaccharidosis II (PMID: 1303211, 21291454, 21829674, 18500569, 27146977). ClinVar contains an entry for this variant (Variation ID: 10486). Experimental studies and prediction algorithms are not available for this variant, and the functional significance of the affected amino acid(s) is currently unknown. For these reasons, this variant has been classified as Pathogenic.
Department of Medical Genetics, Sanjay Gandhi Post Graduate Institute of Medical Sciences RCV000011232 SCV001480523 pathogenic Mucopolysaccharidosis, MPS-II criteria provided, single submitter clinical testing
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

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