Total submissions: 6
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Counsyl | RCV000673915 | SCV000799171 | likely pathogenic | Mucolipidosis type II; Pseudo-Hurler polydystrophy | 2018-04-10 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000673915 | SCV001589669 | pathogenic | Mucolipidosis type II; Pseudo-Hurler polydystrophy | 2023-12-23 | criteria provided, single submitter | clinical testing | This sequence change creates a premature translational stop signal (p.Asn148Thrfs*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 present in population databases (rs775347677, gnomAD 0.007%). This premature translational stop signal has been observed in individual(s) with mucolipidosis II (PMID: 19659762). ClinVar contains an entry for this variant (Variation ID: 39079). For these reasons, this variant has been classified as Pathogenic. |
Revvity Omics, |
RCV003137551 | SCV003824675 | pathogenic | not provided | 2023-06-21 | criteria provided, single submitter | clinical testing | |
Gene |
RCV003137551 | SCV004168932 | pathogenic | not provided | 2023-04-29 | criteria provided, single submitter | clinical testing | Frameshift variant predicted to result in protein truncation or nonsense mediated decay in a gene for which loss of function is a known mechanism of disease; Not observed at significant frequency in large population cohorts (gnomAD); This variant is associated with the following publications: (PMID: 32651481, 30882951, 19659762) |
Gene |
RCV000032346 | SCV000055993 | not provided | Mucolipidosis type II | no assertion provided | literature only | ||
Natera, |
RCV000032346 | SCV002088608 | pathogenic | Mucolipidosis type II | 2020-07-09 | no assertion criteria provided | clinical testing |