ClinVar Miner

Submissions for variant NM_000202.8(IDS):c.998C>T (p.Ser333Leu) (rs104894853)

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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000790725 SCV000232028 pathogenic not provided 2013-08-29 criteria provided, single submitter clinical testing
LISIN Facultad de Ciencias Exactas, Universidad Nacional de La Plata RCV000011233 SCV000262529 pathogenic Mucopolysaccharidosis, MPS-II 2010-04-16 criteria provided, single submitter research
Invitae RCV000011233 SCV001207067 pathogenic Mucopolysaccharidosis, MPS-II 2019-12-18 criteria provided, single submitter clinical testing This sequence change replaces serine with leucine at codon 333 of the IDS protein (p.Ser333Leu). The serine residue is moderately conserved and there is a large physicochemical difference between serine and leucine. This variant is not present in population databases (ExAC no frequency). This variant has been observed in several individuals affected with mucopolysaccharidosis type II (MPS II) (PMID: 28543354, 1639384, 30639582, Invitae). ClinVar contains an entry for this variant (Variation ID: 10487). This variant has been reported to affect IDS protein function (PMID: 28543354, 17091340). For these reasons, this variant has been classified as Pathogenic.
Department of Medical Genetics, Sanjay Gandhi Post Graduate Institute of Medical Sciences RCV000011233 SCV001480194 pathogenic Mucopolysaccharidosis, MPS-II criteria provided, single submitter clinical testing
OMIM RCV000011233 SCV000031460 pathogenic Mucopolysaccharidosis, MPS-II 1992-07-01 no assertion criteria provided literature only
GeneReviews RCV000011233 SCV000999926 pathogenic Mucopolysaccharidosis, MPS-II 2018-10-04 no assertion criteria provided literature only
Pediatrics,All India Institute of Medical Sciences, New Delhi RCV000011233 SCV001573787 affects Mucopolysaccharidosis, MPS-II 2014-04-07 no assertion criteria provided research The change c.998C>T (p.S333L) was found to be a missense variant, where the hydroxyl-containing polar neutral amino acid Serine at 333 position was substituted by aliphatic nonpolar neutral amino acid Leucine. It was detected in a hemizygous state in one case with severe phenotype from Haryana, India.

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