Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Counsyl | RCV000674733 | SCV000800124 | likely pathogenic | Mucopolysaccharidosis, MPS-III-B | 2018-05-23 | criteria provided, single submitter | clinical testing | |
Labcorp Genetics |
RCV003768013 | SCV004571434 | pathogenic | Mucopolysaccharidosis, MPS-III-B; Charcot-Marie-Tooth disease axonal type 2V | 2023-01-13 | criteria provided, single submitter | clinical testing | ClinVar contains an entry for this variant (Variation ID: 558459). 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.Val724Glyfs*32) have been determined to be pathogenic (PMID: 10094189; Invitae). This suggests that this is a clinically significant region of the protein, and that variants that disrupt it are likely to be disease-causing. This premature translational stop signal has been observed in individual(s) with mucopolysaccharidosis type III (PMID: 21910976). This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Tyr558*) in the NAGLU gene. While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 186 amino acid(s) of the NAGLU protein. |