Total submissions: 5
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Counsyl | RCV000667572 | SCV000792049 | pathogenic | Hurler syndrome | 2017-06-07 | criteria provided, single submitter | clinical testing | |
| Invitae | RCV001389275 | SCV001590574 | pathogenic | Mucopolysaccharidosis type 1 | 2023-09-07 | criteria provided, single submitter | clinical testing | This sequence change creates a premature translational stop signal (p.Tyr202*) in the IDUA gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in IDUA are known to be pathogenic (PMID: 11735025, 21480867). The frequency data for this variant in the population databases is considered unreliable, as metrics indicate poor data quality at this position in the gnomAD database. This premature translational stop signal has been observed in individual(s) with mucopolysaccharidosis type I (PMID: 12559846). ClinVar contains an entry for this variant (Variation ID: 552333). For these reasons, this variant has been classified as Pathogenic. |
| Women's Health and Genetics/Laboratory Corporation of America, |
RCV001389275 | SCV002074451 | pathogenic | Mucopolysaccharidosis type 1 | 2022-01-27 | criteria provided, single submitter | clinical testing | Variant summary: IDUA c.606C>A (p.Tyr202X) 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 4.3e-06 in 230974 control chromosomes (gnomAD). c.606C>A has been reported in the literature in individuals affected with Mucopolysaccharidosis Type 1 (e.g. Matte_2003, Pollard_2013, Ghosh_2017). Two ClinVar submitters (evaluation after 2014) cites the variant as pathogenic. Based on the evidence outlined above, the variant was classified as pathogenic. |
| Institute Of Human Genetics Munich, |
RCV000667572 | SCV002764734 | pathogenic | Hurler syndrome | 2021-06-29 | criteria provided, single submitter | clinical testing | |
| Natera, |
RCV001389275 | SCV002075299 | pathogenic | Mucopolysaccharidosis type 1 | 2021-01-21 | no assertion criteria provided | clinical testing |