Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Counsyl | RCV000673665 | SCV000798893 | likely pathogenic | Mucopolysaccharidosis, MPS-III-B | 2018-03-27 | criteria provided, single submitter | clinical testing | |
Invitae | RCV001218806 | SCV001390710 | pathogenic | Mucopolysaccharidosis, MPS-III-B; Charcot-Marie-Tooth disease axonal type 2V | 2023-01-15 | criteria provided, single submitter | clinical testing | This variant has not been reported in the literature in individuals affected with NAGLU-related conditions. For these reasons, this variant has been classified as Pathogenic. This variant disrupts a region of the NAGLU protein in which other variant(s) (p.Arg626*) have been determined to be pathogenic (PMID: 8650226, 9832037, 10094189). This suggests that this is a clinically significant region of the protein, and that variants that disrupt it are likely to be disease-causing. ClinVar contains an entry for this variant (Variation ID: 557513). This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Gln365*) in the NAGLU gene. While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 379 amino acid(s) of the NAGLU protein. |
Revvity Omics, |
RCV001784286 | SCV002018192 | pathogenic | not provided | 2020-04-23 | criteria provided, single submitter | clinical testing |