Total submissions: 2
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Labcorp Genetics |
RCV001068754 | SCV001233886 | pathogenic | Mucopolysaccharidosis type 1 | 2023-09-19 | criteria provided, single submitter | clinical testing | This premature translational stop signal has been observed in individual(s) with Hurler syndrome (PMID: 7550242). ClinVar contains an entry for this variant (Variation ID: 862097). For these reasons, this variant has been classified as Pathogenic. This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Leu566Glyfs*2) 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). |
| Women's Health and Genetics/Laboratory Corporation of America, |
RCV001068754 | SCV002555650 | likely pathogenic | Mucopolysaccharidosis type 1 | 2022-06-01 | criteria provided, single submitter | clinical testing | Variant summary: IDUA c.1695_1705del11 (p.Leu566GlyfsX2) 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 was absent in 242986 control chromosomes (gnomAD). c.1695_1705del11 has been reported in a heterozygous patient with Hurler Syndrome (example: Bunge_1995). This report does not provide unequivocal conclusions about association of the variant with Mucopolysaccharidosis Type 1. One clinical diagnostic laboratory has submitted clinical-significance assessments for this variant to ClinVar after 2014 and classified the variant as pathogenic. Based on the evidence outlined above, the variant was classified as likely pathogenic. |