Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000332868 | SCV000342029 | pathogenic | not provided | 2016-06-04 | criteria provided, single submitter | clinical testing | |
Invitae | RCV001068161 | SCV001233253 | pathogenic | Mucopolysaccharidosis, MPS-III-B; Charcot-Marie-Tooth disease axonal type 2V | 2024-01-04 | criteria provided, single submitter | clinical testing | This sequence change creates a premature translational stop signal (p.Gln232*) in the NAGLU gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in NAGLU are known to be pathogenic (PMID: 9832037, 10094189, 16151907). This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with NAGLU-related conditions. ClinVar contains an entry for this variant (Variation ID: 288040). For these reasons, this variant has been classified as Pathogenic. |
Counsyl | RCV000984288 | SCV001132438 | likely pathogenic | Mucopolysaccharidosis, MPS-III-B | 2017-02-07 | no assertion criteria provided | clinical testing |