Total submissions: 7
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
EGL Genetic Diagnostics, |
RCV000078455 | SCV000110311 | pathogenic | not provided | 2013-11-12 | criteria provided, single submitter | clinical testing | |
DNA and Cytogenetics Diagnostics Unit, |
RCV000001626 | SCV000744579 | pathogenic | Mucopolysaccharidosis, MPS-III-B | 2015-09-21 | criteria provided, single submitter | clinical testing | |
Counsyl | RCV000001626 | SCV000793107 | likely pathogenic | Mucopolysaccharidosis, MPS-III-B | 2017-07-27 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000817080 | SCV000957620 | pathogenic | Mucopolysaccharidosis, MPS-III-B; Charcot-Marie-Tooth disease, axonal type 2V | 2019-08-22 | criteria provided, single submitter | clinical testing | This sequence change replaces arginine with histidine at codon 674 of the NAGLU protein (p.Arg674His). The arginine residue is highly conserved and there is a small physicochemical difference between arginine and histidine. This variant is present in population databases (rs104894590, ExAC 0.01%). This variant has been observed in several individuals affected with MPS IIIB (PMID: 8650226, 9443875, 9950362, 20852935). ClinVar contains an entry for this variant (Variation ID: 1560). This variant has been reported to affect NAGLU protein function (PMID: 9443878). This variant disrupts the p.Arg674 amino acid residue in NAGLU. Other variant(s) that disrupt this residue have been observed in individuals with NAGLU-related conditions (PMID: 9443875, 10094189), suggesting that it is a clinically significant residue. As a result, variants that disrupt this residue are likely to be causative of disease. For these reasons, this variant has been classified as Pathogenic. |
OMIM | RCV000001626 | SCV000021782 | pathogenic | Mucopolysaccharidosis, MPS-III-B | 1996-06-11 | no assertion criteria provided | literature only | |
Diagnostic Laboratory, |
RCV000001626 | SCV000733580 | pathogenic | Mucopolysaccharidosis, MPS-III-B | no assertion criteria provided | clinical testing | ||
Natera, |
RCV000001626 | SCV001463396 | pathogenic | Mucopolysaccharidosis, MPS-III-B | 2020-09-16 | no assertion criteria provided | clinical testing |