Total submissions: 2
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Women's Health and Genetics/Laboratory Corporation of America, |
RCV001251348 | SCV001426916 | likely pathogenic | Mucopolysaccharidosis type 1 | 2020-07-16 | criteria provided, single submitter | clinical testing | Variant summary: IDUA c.1907_1917del11 (p.Val636GlyfsX19) causes a frameshift which results in an extension of the protein. The variant was absent in 249106 control chromosomes. c.1907_1917del11 has been reported in the literature in at least one individual affected with Mucopolysaccharidosis Type 1 (Bunge_1995). 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 likely pathogenic. |
| Invitae | RCV001251348 | SCV003520575 | uncertain significance | Mucopolysaccharidosis type 1 | 2022-09-13 | criteria provided, single submitter | clinical testing | This sequence change creates a premature translational stop signal (p.Val636Glyfs*19) in the IDUA gene. While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 18 amino acid(s) of the IDUA protein. This variant is not present in population databases (gnomAD no frequency). This premature translational stop signal has been observed in individual(s) with mucopolysaccharidosis type I (PMID: 7550242). ClinVar contains an entry for this variant (Variation ID: 974984). In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. |