Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Counsyl | RCV000668275 | SCV000792848 | likely pathogenic | Mucolipidosis type II; Pseudo-Hurler polydystrophy | 2017-07-18 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000668275 | SCV001586152 | pathogenic | Mucolipidosis type II; Pseudo-Hurler polydystrophy | 2023-08-14 | criteria provided, single submitter | clinical testing | This variant has not been reported in the literature in individuals affected with GNPTAB-related conditions. This sequence change creates a premature translational stop signal (p.Thr873Asnfs*2) 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 (rs752874974, gnomAD 0.01%). ClinVar contains an entry for this variant (Variation ID: 552925). For these reasons, this variant has been classified as Pathogenic. |