Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001244118 | SCV001417318 | uncertain significance | Mucopolysaccharidosis, MPS-III-B; Charcot-Marie-Tooth disease axonal type 2V | 2021-09-02 | criteria provided, single submitter | clinical testing | This sequence change replaces threonine with alanine at codon 81 of the NAGLU protein (p.Thr81Ala). The threonine residue is weakly conserved and there is a small physicochemical difference between threonine and alanine. The frequency data for this variant in the population databases is considered unreliable, as metrics indicate insufficient coverage at this position in the ExAC database. This missense change has been observed in individual(s) with mucopolysaccharidosis type III (PMID: 23840811). Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated. 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. |
Natera, |
RCV001835196 | SCV002093248 | uncertain significance | Mucopolysaccharidosis, MPS-III-B | 2020-08-03 | no assertion criteria provided | clinical testing |