Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Counsyl | RCV000670584 | SCV000795454 | likely pathogenic | Mucopolysaccharidosis, MPS-III-B | 2017-11-08 | criteria provided, single submitter | clinical testing | |
Institute of Human Genetics, |
RCV000670584 | SCV002102466 | pathogenic | Mucopolysaccharidosis, MPS-III-B | 2022-02-25 | criteria provided, single submitter | clinical testing | This variant was identified as compound heterozygous with NM_000263.4:c.1834A>G. Criteria applied: PVS1, PP4_STR, PM2_SUP |
Invitae | RCV001861796 | SCV002206240 | pathogenic | Mucopolysaccharidosis, MPS-III-B; Charcot-Marie-Tooth disease axonal type 2V | 2023-09-01 | criteria provided, single submitter | clinical testing | For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 554876). This premature translational stop signal has been observed in individual(s) with NAGLU-related conditions (PMID: 9832037). This variant is present in population databases (no rsID available, gnomAD 0.02%). This sequence change creates a premature translational stop signal (p.Arg74Profs*42) 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). |