Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001380992 | SCV001579235 | pathogenic | Mucolipidosis type II; Pseudo-Hurler polydystrophy | 2023-11-17 | criteria provided, single submitter | clinical testing | This sequence change creates a premature translational stop signal (p.Gln104*) 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 mucolipidosis type II (PMID: 16116615). ClinVar contains an entry for this variant (Variation ID: 2763). For these reasons, this variant has been classified as Pathogenic. |
OMIM | RCV000002890 | SCV000023048 | pathogenic | Mucolipidosis type II | 2005-10-01 | no assertion criteria provided | literature only | |
Gene |
RCV000002890 | SCV000054673 | pathologic | Mucolipidosis type II | 2012-05-10 | no assertion criteria provided | curation | Converted during submission to Pathogenic. |