Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001852636 | SCV002246389 | pathogenic | Mucolipidosis type II; Pseudo-Hurler polydystrophy | 2022-02-17 | criteria provided, single submitter | clinical testing | This sequence change creates a premature translational stop signal (p.Thr284Leufs*5) 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 premature translational stop signal has been observed in individual(s) with clinical features of mucolipidosis type II (PMID: 16465621). This variant is also known as FS288X, 1012delA. ClinVar contains an entry for this variant (Variation ID: 38434). For these reasons, this variant has been classified as Pathogenic. |
Gene |
RCV000031992 | SCV000054693 | pathologic | Mucolipidosis type II | 2012-05-10 | no assertion criteria provided | curation | Converted during submission to Pathogenic. |