ClinVar Miner

Submissions for variant NM_000202.8(IDS):c.1122C>T (p.Gly374=) (rs113993948)

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Total submissions: 7
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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 RCV000011237 SCV000262535 pathogenic Mucopolysaccharidosis, MPS-II 2007-11-13 criteria provided, single submitter research
Invitae RCV000011237 SCV000628120 pathogenic Mucopolysaccharidosis, MPS-II 2020-10-31 criteria provided, single submitter clinical testing This sequence change affects codon 374 of the IDS mRNA. It is a 'silent' change, meaning that it does not change the encoded amino acid sequence of the IDS protein. This variant is not present in population databases (rs113993948, ExAC no frequency). This variant is a prevalent mucopolysaccharidosis Type II (MPS II) mutation and has been reported in multiple affected individuals (PMID: 8940265, 16133661, 17063374, 21829674, 22976768, 27146977). This variant is also known as c.1246C>T in the literature. Experimental studies have shown that this variant creates a new donor splice site which results in a transcript lacking the last 60 bp (deletion of 20 amino acids) of exon 8 (PMID: 26693516, 26407519, 8940265). In summary, this is a rare silent change that has been reported to disrupt RNA splicing and observed only in MPS II patients but not the general population. For these reasons, this variant has been classified as Pathogenic.
Department of Medical Genetics, Sanjay Gandhi Post Graduate Institute of Medical Sciences RCV000011237 SCV001480480 likely pathogenic Mucopolysaccharidosis, MPS-II criteria provided, single submitter clinical testing
OMIM RCV000011237 SCV000031464 pathogenic Mucopolysaccharidosis, MPS-II 1992-07-01 no assertion criteria provided literature only
GeneReviews RCV000011237 SCV000999929 pathogenic Mucopolysaccharidosis, MPS-II 2018-10-04 no assertion criteria provided literature only
Beijing Key Laboratory for Genetic Research of Skeletal Deformity, Peking Union Medical College Hospital RCV000011237 SCV001482353 pathogenic Mucopolysaccharidosis, MPS-II 2019-05-31 no assertion criteria provided research
Pediatrics,All India Institute of Medical Sciences, New Delhi RCV000011237 SCV001573802 affects Mucopolysaccharidosis, MPS-II 2014-04-13 no assertion criteria provided research The change c.1122C>T is a known cryptic splice generator variant. This mutation is due to the substitution of C to T at nucleotide position c.11122 in the exon 8 of IDS gene. In the present study, it was detected in a hemizygous state in one of the patient with severe phenotype from Delhi, India. Uttarilli et al., 2016 described its presence in six MPS II patients of which four with severe phenotype and two with an attenuated phenotype.

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