Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Counsyl | RCV000132722 | SCV000790585 | likely pathogenic | Mucopolysaccharidosis, MPS-III-B | 2017-03-29 | criteria provided, single submitter | clinical testing | |
Invitae | RCV001036826 | SCV001200209 | pathogenic | Mucopolysaccharidosis, MPS-III-B; Charcot-Marie-Tooth disease, axonal type 2V | 2019-03-26 | criteria provided, single submitter | clinical testing | This sequence change replaces glycine with glutamic acid at codon 650 of the NAGLU protein (p.Gly650Glu). The glycine residue is highly conserved and there is a moderate physicochemical difference between glycine and glutamic acid. This variant is not present in population databases (ExAC no frequency). This variant has been observed in several individuals affected with mucopolysaccharidosis (PMID: 22976768, 10094189, 23661660). This variant has also been observed to segregate with mucopolysaccharidosis type IIIB in a family (PMID: 23661660). ClinVar contains an entry for this variant (Variation ID: 143188). Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). For these reasons, this variant has been classified as Pathogenic. |
Undiagnosed Diseases Program Translational Research Laboratory, |
RCV000132722 | SCV000187651 | pathogenic | Mucopolysaccharidosis, MPS-III-B | no assertion criteria provided | not provided | Converted during submission to Pathogenic. |