Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Counsyl | RCV000673016 | SCV000798180 | uncertain significance | Mucopolysaccharidosis, MPS-III-B | 2018-02-27 | criteria provided, single submitter | clinical testing | |
Invitae | RCV002532140 | SCV002947311 | uncertain significance | Mucopolysaccharidosis, MPS-III-B; Charcot-Marie-Tooth disease axonal type 2V | 2022-06-29 | criteria provided, single submitter | clinical testing | This sequence change results in a frameshift in the NAGLU gene (p.*744Trpext*1). While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last amino acid(s) of the NAGLU protein and extend the protein by 1 additional amino acid residues. This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with NAGLU-related conditions. ClinVar contains an entry for this variant (Variation ID: 556946). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site. 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. |