Total submissions: 3
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Myriad Genetics, |
RCV001263862 | SCV001441959 | likely pathogenic | Mucolipidosis type II; Pseudo-Hurler polydystrophy | 2019-02-08 | criteria provided, single submitter | clinical testing | |
| Labcorp Genetics |
RCV001263862 | SCV003311750 | pathogenic | Mucolipidosis type II; Pseudo-Hurler polydystrophy | 2022-02-03 | criteria provided, single submitter | clinical testing | This sequence change creates a premature translational stop signal (p.Trp894*) 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 not present in population databases (gnomAD no frequency). 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: 983859). For these reasons, this variant has been classified as Pathogenic. |
| Women's Health and Genetics/Laboratory Corporation of America, |
RCV004690040 | SCV005184904 | pathogenic | Mucolipidosis | 2024-05-10 | criteria provided, single submitter | clinical testing | Variant summary: GNPTAB c.2682G>A (p.Trp894X) results in a premature termination codon, predicted to cause a truncation of the encoded protein or absence of the protein due to nonsense mediated decay, which are commonly known mechanisms for disease. The variant was absent in 251036 control chromosomes. To our knowledge, no occurrence of c.2682G>A in individuals affected with GNPTAB-related conditions and no experimental evidence demonstrating its impact on protein function have been reported. ClinVar contains an entry for this variant (Variation ID: 983859). Based on the evidence outlined above, the variant was classified as pathogenic. |