ClinVar Miner

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

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Total submissions: 4
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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 2019-05-03 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.
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

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