Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000179972 | SCV000232299 | pathogenic | not provided | 2013-01-21 | criteria provided, single submitter | clinical testing | |
Invitae | RCV001388068 | SCV001588906 | pathogenic | Mucolipidosis type II; Pseudo-Hurler polydystrophy | 2023-01-14 | criteria provided, single submitter | clinical testing | For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 96124). This premature translational stop signal has been observed in individual(s) with GNPTAB-related conditions (PMID: 32341820). This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Lys244Asnfs*10) 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). |