Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
EGL Genetic Diagnostics, |
RCV000592453 | SCV000702005 | uncertain significance | not provided | 2016-10-06 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000652882 | SCV000774754 | uncertain significance | Mucopolysaccharidosis, MPS-III-B; Charcot-Marie-Tooth disease, axonal type 2V | 2018-03-06 | criteria provided, single submitter | clinical testing | This sequence change replaces leucine with proline at codon 496 of the NAGLU protein (p.Leu496Pro). The leucine residue is highly conserved and there is a moderate physicochemical difference between leucine and proline. This variant is present in population databases (rs569519789, ExAC 0.02%). This variant has not been reported in the literature in individuals with NAGLU-related disease. Algorithms developed to predict the effect of missense changes on protein structure and function do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. |