Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000175232 | SCV000226678 | pathogenic | not provided | 2014-05-20 | criteria provided, single submitter | clinical testing | |
Invitae | RCV001052463 | SCV001216675 | pathogenic | Mucolipidosis type II; Pseudo-Hurler polydystrophy | 2023-09-15 | criteria provided, single submitter | clinical testing | This sequence change creates a premature translational stop signal (p.Asn1109Lysfs*4) 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: 194787). For these reasons, this variant has been classified as Pathogenic. |