ClinVar Miner

Submissions for variant NM_000202.8(IDS):c.1393C>T (p.Gln465Ter) (rs864622772)

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Total submissions: 3
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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 RCV000205510 SCV000262514 pathogenic Mucopolysaccharidosis, MPS-II 2013-10-30 criteria provided, single submitter research
Invitae RCV000205510 SCV000825696 pathogenic Mucopolysaccharidosis, MPS-II 2018-06-28 criteria provided, single submitter clinical testing This sequence change results in a premature translational stop signal in the IDS gene (p.Gln465*). While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 86 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 type II (PMID: 8830188, 17063374, Invitae). ClinVar contains an entry for this variant (Variation ID: 221202). Other truncations (p.Met488Serfs*11, p.Tyr523Leufs*6 and p.Leu530Phefs*8) that lie downstream of this variant have been reported in individuals affected with mucopolysaccharidosis type II (PMID: 27246110, 8940265, 17284421). For these reasons, this variant has been classified as Pathogenic.
GeneDx RCV001008649 SCV001168424 pathogenic not provided 2019-04-03 criteria provided, single submitter clinical testing Observed in hemizygous state in several unrelated patients with Hunter syndrome in published literature (Li et al., 1996; Amartino et al., 2014; Galvis et al., 2015) and not observed in hemizygous state in controlsNonsense variant in the C-terminus predicted to result in protein truncation, as the last 85 amino acids are lost, and other variants have been reported downstream in the Human Gene Mutation Database (Stenson et al., 2014)Not observed in large population cohorts (Lek et al., 2016)

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