Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000174163 | SCV000225416 | pathogenic | not provided | 2013-08-28 | criteria provided, single submitter | clinical testing | |
Invitae | RCV002513847 | SCV002952946 | pathogenic | Mucolipidosis type II; Pseudo-Hurler polydystrophy | 2023-10-28 | criteria provided, single submitter | clinical testing | This sequence change creates a premature translational stop signal (p.Trp433*) in the GNPTAB gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in GNPTAB are known to be pathogenic (PMID: 19617216, 25107912). This variant is present in population databases (rs398124397, gnomAD 0.003%). This variant has not been reported in the literature in individuals affected with GNPTAB-related conditions. ClinVar contains an entry for this variant (Variation ID: 96117). For these reasons, this variant has been classified as Pathogenic. |