ClinVar Miner

Submissions for variant NM_000202.8(IDS):c.1044C>G (p.Tyr348Ter) (rs1569560392)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Integrated Genetics/Laboratory Corporation of America RCV000781473 SCV000919531 pathogenic Mucopolysaccharidosis, MPS-II 2018-12-26 criteria provided, single submitter clinical testing Variant summary: IDS c.1044C>G (p.Tyr348X) results in a premature termination codon, predicted to cause a truncation of the encoded protein or absence of the protein due to nonsense mediated decay, which are commonly known mechanisms for disease. The variant was absent in 87394 control chromosomes (ExAC). c.1044C>G has been reported in the literature in individuals affected with Mucopolysaccharidosis Type II (Hunter Syndrome) (Froissart_2007, Charoenwattanasatien_2012). These data indicate that the variant may be associated with disease. A functional study, showed the variant to have no IDS activity in COS7 cells (Charoenwattanasatien_2012). No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar after 2014. Based on the evidence outlined above, the variant was classified as pathogenic.

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