Total submissions: 1
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Women's Health and Genetics/Laboratory Corporation of America, |
RCV002238558 | SCV002511425 | pathogenic | Mucopolysaccharidosis type 1 | 2022-04-25 | criteria provided, single submitter | clinical testing | Variant summary: IDUA c.1198C>T (p.Gln400X) 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. Truncations downstream of this position have been classified as pathogenic by our laboratory. The variant allele was found at a frequency of 1.1e-05 in 91448 control chromosomes (gnomAD). c.1198C>T has been reported in the literature in individuals affected with Mucopolysaccharidosis Type 1 (Beesley_2001, Hein_2004, Clarke_2019). These data indicate that the variant is likely to be associated with disease. To our knowledge, no experimental evidence demonstrating an impact on protein function has been reported. 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. |