Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Counsyl | RCV000667811 | SCV000792316 | likely pathogenic | Mucolipidosis type II; Pseudo-Hurler polydystrophy | 2017-06-21 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000667811 | SCV001589668 | pathogenic | Mucolipidosis type II; Pseudo-Hurler polydystrophy | 2023-05-19 | 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: 39086). This premature translational stop signal has been observed in individual(s) with mucolipidosis (PMID: 19617216, 29872134). This variant is present in population databases (rs281864963, gnomAD 0.002%). This sequence change creates a premature translational stop signal (p.Glu217Serfs*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). |
Gene |
RCV000032353 | SCV000056000 | not provided | Mucolipidosis type II | no assertion provided | literature only | ||
Natera, |
RCV000032353 | SCV002088603 | pathogenic | Mucolipidosis type II | 2021-05-19 | no assertion criteria provided | clinical testing |